Linked Data
dbSNP Id:
rs1454380993
gnomAD v2:
14-77745186-C-T
gnomAD v3:
14-77278843-C-T
gnomAD v4:
14-77278843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278843C>T , CM000676.2:g.77278843C>T | GRCh38 |
| NC_000014.8:g.77745186C>T , CM000676.1:g.77745186C>T | GRCh37 |
| NC_000014.7:g.76814939C>T | NCBI36 |
| NG_008897.1:g.47040G>A , LRG_844:g.47040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.843G>A | ||
| ENST00000556394.2:c.1459G>A | ENSP00000451967.2:p.Gly487Ser | |
| ENST00000682128.1:c.219G>A | ENSP00000506976.1:n.219G>A | |
| ENST00000682247.1:c.1907G>A | ENSP00000507213.1:p.Arg636Lys | |
| ENST00000682395.1:n.2382G>A | ||
| ENST00000682459.1:n.1621G>A | ||
| ENST00000682467.1:c.1892-335G>A | ENSP00000508062.1:n.1892-335G>A | |
| ENST00000682615.1:n.272G>A | ||
| ENST00000682795.1:c.2065G>A | ENSP00000507574.1:p.Gly689Ser | |
| ENST00000682895.1:n.1634G>A | ||
| ENST00000682955.1:n.1492G>A | ||
| ENST00000683095.1:c.324G>A | ENSP00000508040.1:n.324G>A | |
| ENST00000683188.1:c.2179G>A | ||
| ENST00000683380.1:n.1582G>A | ||
| ENST00000683828.1:c.1627G>A | ||
| ENST00000683907.1:c.183G>A | ENSP00000507754.1:p.Glu61= | |
| ENST00000684172.1:c.294G>A | ENSP00000508391.1:n.294G>A | |
| ENST00000684259.1:n.3685G>A | ||
| ENST00000684538.1:n.1297G>A | ||
| ENST00000684549.1:n.1469G>A | ||
| ENST00000261534.9:c.1918G>A MANE Select | ENSP00000261534.4:p.Gly640Ser | |
| ENST00000261534.8:c.1918G>A | ENSP00000261534.4:p.Gly640Ser | |
| ENST00000452340.7:n.2894G>A | ||
| ENST00000554767.5:n.2704G>A | ||
| ENST00000555134.1:n.843G>A | ||
| ENST00000555710.1:c.279G>A | ENSP00000451730.1:n.279G>A | |
| ENST00000556171.1:c.510G>A | ||
| ENST00000556394.1:c.88-335G>A | ||
| ENST00000556446.1:n.219G>A | ||
| ENST00000602717.5:c.133G>A | ENSP00000487704.1:p.Gly45Ser | |
| NM_013382.5:c.1918G>A , LRG_844t1:c.1918G>A | NP_037514.2:p.Gly640Ser | |
| XM_011536675.1:c.2107G>A | XP_011534977.1:p.Gly703Ser | |
| XM_011536676.1:c.1774G>A | XP_011534978.1:p.Gly592Ser | |
| XM_011536677.1:c.1648G>A | XP_011534979.1:p.Gly550Ser | |
| XM_011536679.1:c.1201G>A | XP_011534981.1:p.Gly401Ser | |
| XR_943416.1:n.2171G>A | ||
| XM_011536675.2:c.2107G>A | XP_011534977.1:p.Gly703Ser | |
| XM_011536676.2:c.1774G>A | XP_011534978.1:p.Gly592Ser | |
| XM_011536677.3:c.1648G>A | XP_011534979.1:p.Gly550Ser | |
| XR_001750279.1:n.2204G>A | ||
| XR_001750282.1:n.2857G>A | ||
| XR_943416.3:n.2169G>A | ||
| NM_013382.6:c.1918G>A | NP_037514.2:p.Gly640Ser | |
| NM_013382.7:c.1918G>A MANE Select | NP_037514.2:p.Gly640Ser |