Linked Data
ClinVar Variation Id:
3242
dbSNP Id:
rs119462984
gnomAD v4:
9-131520175-G-C
PubMed:
PMID:16575835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520175G>C , CM000671.2:g.131520175G>C | GRCh38 |
| NC_000009.11:g.134395562G>C , CM000671.1:g.134395562G>C | GRCh37 |
| NC_000009.10:g.133385383G>C | NCBI36 |
| NG_008896.1:g.22274G>C | |
| NG_008896.2:g.22274G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1518G>C | ENSP00000343034.7:p.Trp506Cys | |
| ENST00000404875.7:n.2220G>C | ||
| ENST00000423007.6:c.1737G>C | ENSP00000404119.2:p.Trp579Cys | |
| ENST00000677295.2:c.*2024G>C | ENSP00000504346.2:n.*2024G>C | |
| ENST00000678264.2:c.*1863G>C | ENSP00000503157.2:n.*1863G>C | |
| ENST00000682070.1:n.2145G>C | ||
| ENST00000682813.1:n.2084G>C | ||
| ENST00000683392.1:n.4427G>C | ||
| ENST00000683712.1:n.2085G>C | ||
| ENST00000683900.1:n.3580G>C | ||
| ENST00000684062.1:n.2346G>C | ||
| ENST00000684579.1:n.3526G>C | ||
| ENST00000684679.1:n.907G>C | ||
| ENST00000341012.12:c.1518G>C | ENSP00000343034.7:p.Trp506Cys | |
| ENST00000372220.5:c.549G>C | ENSP00000361294.5:p.Trp183Cys | |
| ENST00000372228.9:c.1746G>C | ENSP00000361302.3:p.Trp582Cys | |
| ENST00000402686.8:c.1680G>C MANE Select | ENSP00000385797.4:p.Trp560Cys | |
| ENST00000676640.1:c.1680G>C | ENSP00000503281.1:p.Trp560Cys | |
| ENST00000676803.1:c.759+689G>C | ENSP00000503093.1:n.759+689G>C | |
| ENST00000676835.1:c.*895G>C | ENSP00000502911.1:n.*895G>C | |
| ENST00000677029.1:c.1224G>C | ENSP00000502936.1:p.Trp408Cys | |
| ENST00000677099.1:c.*1390G>C | ENSP00000504553.1:n.*1390G>C | |
| ENST00000677216.1:c.1329G>C | ENSP00000503772.1:p.Trp443Cys | |
| ENST00000677221.1:n.705G>C | ||
| ENST00000677295.1:c.*1057G>C | ENSP00000504346.1:n.*1057G>C | |
| ENST00000677444.1:c.1625G>C | ||
| ENST00000677586.1:n.1065+689G>C | ||
| ENST00000677626.1:c.1329G>C | ENSP00000503552.1:p.Trp443Cys | |
| ENST00000677677.1:n.1640G>C | ||
| ENST00000677853.1:c.*688G>C | ENSP00000503488.1:n.*688G>C | |
| ENST00000678202.1:n.839G>C | ||
| ENST00000678264.1:c.*1057G>C | ENSP00000503157.1:n.*1057G>C | |
| ENST00000678303.1:c.1590G>C | ENSP00000503696.1:p.Trp530Cys | |
| ENST00000678366.1:c.*1929G>C | ENSP00000504353.1:n.*1929G>C | |
| ENST00000678546.1:c.*1625G>C | ENSP00000503062.1:n.*1625G>C | |
| ENST00000678548.1:c.*1752G>C | ENSP00000503934.1:n.*1752G>C | |
| ENST00000678626.1:n.1516G>C | ||
| ENST00000678739.1:c.*2001G>C | ENSP00000503806.1:n.*2001G>C | |
| ENST00000678833.1:c.*1432G>C | ENSP00000503893.1:n.*1432G>C | |
| ENST00000679023.1:c.1518G>C | ENSP00000503718.1:p.Trp506Cys | |
| ENST00000679076.1:c.1299G>C | ||
| ENST00000679111.1:c.*436G>C | ENSP00000504257.1:n.*436G>C | |
| ENST00000679189.1:c.1329G>C | ENSP00000503356.1:p.Trp443Cys | |
| ENST00000341012.11:c.1518G>C | ENSP00000343034.7:p.Trp506Cys | |
| ENST00000372220.4:c.543G>C | ENSP00000361294.4:p.Trp181Cys | |
| ENST00000372228.7:c.1746G>C | ENSP00000361302.3:p.Trp582Cys | |
| ENST00000402686.7:c.1680G>C | ENSP00000385797.3:p.Trp560Cys | |
| ENST00000404875.6:c.1329G>C | ENSP00000384531.2:p.Trp443Cys | |
| ENST00000423007.5:c.1680G>C | ENSP00000404119.1:p.Trp560Cys | |
| ENST00000467848.1:n.384G>C | ||
| ENST00000485278.5:n.2230G>C | ||
| NM_001077365.1:c.1680G>C | NP_001070833.1:p.Trp560Cys | |
| NM_001077366.1:c.1518G>C | NP_001070834.1:p.Trp506Cys | |
| NM_001136113.1:c.1680G>C | NP_001129585.1:p.Trp560Cys | |
| NM_001136114.1:c.1329G>C | NP_001129586.1:p.Trp443Cys | |
| NM_007171.3:c.1746G>C | NP_009102.3:p.Trp582Cys | |
| XM_005272156.1:c.1746G>C | XP_005272213.1:p.Trp582Cys | |
| XM_005272158.1:c.1584G>C | XP_005272215.1:p.Trp528Cys | |
| XM_005272159.1:c.1395G>C | XP_005272216.1:p.Trp465Cys | |
| XM_005272162.1:c.549G>C | XP_005272219.1:p.Trp183Cys | |
| XM_006716932.1:c.1395G>C | XP_006716995.1:p.Trp465Cys | |
| XM_011518140.1:c.1599G>C | XP_011516442.1:p.Trp533Cys | |
| XM_011518141.1:c.1533G>C | XP_011516443.1:p.Trp511Cys | |
| XM_011518142.1:c.1437G>C | XP_011516444.1:p.Trp479Cys | |
| XM_011518143.1:c.1431G>C | XP_011516445.1:p.Trp477Cys | |
| XM_011518145.1:c.1290G>C | XP_011516447.1:p.Trp430Cys | |
| XM_011518147.1:c.618G>C | XP_011516449.1:p.Trp206Cys | |
| XR_929703.1:n.1922G>C | ||
| NM_001353193.1:c.1746G>C | NP_001340122.1:p.Trp582Cys | |
| NM_001353194.1:c.1518G>C | NP_001340123.1:p.Trp506Cys | |
| NM_001353195.1:c.1329G>C | NP_001340124.1:p.Trp443Cys | |
| NM_001353196.1:c.1590G>C | NP_001340125.1:p.Trp530Cys | |
| NM_001353197.1:c.1584G>C | NP_001340126.1:p.Trp528Cys | |
| NM_001353198.1:c.1584G>C | NP_001340127.1:p.Trp528Cys | |
| NM_001353199.1:c.1395G>C | NP_001340128.1:p.Trp465Cys | |
| NM_001353200.1:c.1224G>C | NP_001340129.1:p.Trp408Cys | |
| NR_148391.1:n.1730G>C | ||
| NR_148392.1:n.1948G>C | ||
| NR_148393.1:n.1869G>C | ||
| NR_148394.1:n.1623G>C | ||
| NR_148395.1:n.2021G>C | ||
| NR_148396.1:n.1655G>C | ||
| NR_148397.1:n.1780G>C | ||
| NR_148398.1:n.1735G>C | ||
| NR_148399.1:n.2261G>C | ||
| NR_148400.1:n.1860G>C | ||
| XM_005272162.3:c.549G>C | XP_005272219.1:p.Trp183Cys | |
| XM_006716932.2:c.1395G>C | XP_006716995.1:p.Trp465Cys | |
| XM_011518140.2:c.1599G>C | XP_011516442.1:p.Trp533Cys | |
| XM_011518141.2:c.1533G>C | XP_011516443.1:p.Trp511Cys | |
| XM_011518142.2:c.1437G>C | XP_011516444.1:p.Trp479Cys | |
| XM_011518143.2:c.1431G>C | XP_011516445.1:p.Trp477Cys | |
| XM_011518145.2:c.1290G>C | XP_011516447.1:p.Trp430Cys | |
| XM_017014205.2:c.549G>C | XP_016869694.1:p.Trp183Cys | |
| XM_024447380.1:c.549G>C | XP_024303148.1:p.Trp183Cys | |
| XM_024447381.1:c.855G>C | XP_024303149.1:p.Trp285Cys | |
| XM_024447382.1:c.549G>C | XP_024303150.1:p.Trp183Cys | |
| XR_001746160.2:n.1850G>C | ||
| XR_001746162.2:n.2055G>C | ||
| XR_001746164.1:n.1772G>C | ||
| XR_001746166.2:n.2067G>C | ||
| NM_001077365.2:c.1680G>C MANE Select | NP_001070833.1:p.Trp560Cys | |
| NM_001077366.2:c.1518G>C | NP_001070834.1:p.Trp506Cys | |
| NM_001136113.2:c.1680G>C | NP_001129585.1:p.Trp560Cys | |
| NM_001136114.2:c.1329G>C | NP_001129586.1:p.Trp443Cys | |
| NM_001353193.2:c.1746G>C | NP_001340122.2:p.Trp582Cys | |
| NM_001353194.2:c.1518G>C | NP_001340123.1:p.Trp506Cys | |
| NM_001353195.2:c.1329G>C | NP_001340124.1:p.Trp443Cys | |
| NM_001353196.2:c.1590G>C | NP_001340125.1:p.Trp530Cys | |
| NM_001353197.2:c.1584G>C | NP_001340126.2:p.Trp528Cys | |
| NM_001353198.2:c.1584G>C | NP_001340127.2:p.Trp528Cys | |
| NM_001353199.2:c.1395G>C | NP_001340128.2:p.Trp465Cys | |
| NM_001353200.2:c.1224G>C | NP_001340129.1:p.Trp408Cys | |
| NM_001374689.1:c.1668G>C | NP_001361618.1:p.Trp556Cys | |
| NM_001374690.1:c.1461G>C | NP_001361619.1:p.Trp487Cys | |
| NM_001374691.1:c.1329G>C | NP_001361620.1:p.Trp443Cys | |
| NM_001374692.1:c.1329G>C | NP_001361621.1:p.Trp443Cys | |
| NM_001374693.1:c.1329G>C | NP_001361622.1:p.Trp443Cys | |
| NM_001374695.1:c.1290G>C | NP_001361624.1:p.Trp430Cys | |
| NM_007171.4:c.1746G>C | NP_009102.4:p.Trp582Cys | |
| NR_148391.2:n.1714G>C | ||
| NR_148392.2:n.1932G>C | ||
| NR_148393.2:n.1853G>C | ||
| NR_148394.2:n.1607G>C | ||
| NR_148395.2:n.2005G>C | ||
| NR_148396.2:n.1639G>C | ||
| NR_148397.2:n.1764G>C | ||
| NR_148398.2:n.1719G>C | ||
| NR_148399.2:n.2245G>C | ||
| NR_148400.2:n.1844G>C |