Linked Data
dbSNP Id:
rs768216926
ExAC:
4:110662165 A / C
gnomAD v2:
4-110662165-A-C
gnomAD v4:
4-109741009-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109741009A>C , CM000666.2:g.109741009A>C | GRCh38 |
| NC_000004.11:g.110662165A>C , CM000666.1:g.110662165A>C | GRCh37 |
| NC_000004.10:g.110881614A>C | NCBI36 |
| NG_007569.1:g.65977T>G , LRG_48:g.65977T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1713+1482T>G | ||
| ENST00000695845.1:n.1712+1482T>G | ||
| ENST00000695846.1:n.1660T>G | ||
| ENST00000394634.7:c.1636T>G MANE Select | ENSP00000378130.2:p.Trp546Gly | |
| ENST00000394635.8:c.1660T>G | ENSP00000378131.3:p.Trp554Gly | |
| ENST00000645635.1:c.1534+1482T>G | ENSP00000493607.1:n.1534+1482T>G | |
| ENST00000394634.6:c.1636T>G | ENSP00000378130.2:p.Trp546Gly | |
| ENST00000394635.7:c.1660T>G | ENSP00000378131.3:p.Trp554Gly | |
| ENST00000504853.3:n.2053T>G | ||
| ENST00000512148.5:c.1615T>G | ENSP00000427438.1:p.Trp539Gly | |
| ENST00000618244.4:c.1045-204T>G | ENSP00000483416.1:n.1045-204T>G | |
| NM_000204.3:c.1636T>G , LRG_48t1:c.1636T>G | NP_000195.2:p.Trp546Gly | |
| XM_005262975.1:c.1660T>G | XP_005263032.1:p.Trp554Gly | |
| XM_005262976.1:c.1615T>G | XP_005263033.1:p.Trp539Gly | |
| XM_006714209.1:c.1657T>G | XP_006714272.1:p.Trp553Gly | |
| XM_011531920.1:c.1558+1482T>G | XP_011530222.1:n.1558+1482T>G | |
| NM_000204.4:c.1636T>G | NP_000195.2:p.Trp546Gly | |
| NM_001318057.1:c.1660T>G | NP_001304986.1:p.Trp554Gly | |
| NM_001331035.1:c.1615T>G | NP_001317964.1:p.Trp539Gly | |
| XM_011531920.2:c.1558+1482T>G | XP_011530222.1:n.1558+1482T>G | |
| XM_017008164.2:c.1534+1482T>G | XP_016863653.1:n.1534+1482T>G | |
| XM_017008165.2:c.1513+1482T>G | XP_016863654.1:n.1513+1482T>G | |
| XM_017008166.2:c.1534+1482T>G | XP_016863655.1:n.1534+1482T>G | |
| NM_001318057.2:c.1660T>G | NP_001304986.2:p.Trp554Gly | |
| NM_001331035.2:c.1615T>G | NP_001317964.1:p.Trp539Gly | |
| NM_001375278.1:c.1558+1482T>G | NP_001362207.1:n.1558+1482T>G | |
| NM_001375279.1:c.1534+1482T>G | NP_001362208.1:n.1534+1482T>G | |
| NM_001375280.1:c.1513+1482T>G | NP_001362209.1:n.1513+1482T>G | |
| NM_001375281.1:c.1534+1482T>G | NP_001362210.1:n.1534+1482T>G | |
| NM_001375282.1:c.1513+1482T>G | NP_001362211.1:n.1513+1482T>G | |
| NM_001375283.1:c.1579T>G | NP_001362212.1:p.Trp527Gly | |
| NM_001375284.1:c.1027T>G | NP_001362213.1:p.Trp343Gly | |
| NR_164671.1:n.1383T>G | ||
| NR_164672.1:n.1686T>G | ||
| NR_164673.1:n.1660T>G | ||
| NM_000204.5:c.1636T>G MANE Select | NP_000195.3:p.Trp546Gly |