Linked Data
ClinVar Variation Id:
12123
ClinVar RCV Id:
RCV000012906
dbSNP Id:
rs121964915
gnomAD v4:
4-109741008-C-T
COSMIC:
COSM5901298
PubMed:
PMID:15173250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109741008C>T , CM000666.2:g.109741008C>T | GRCh38 |
| NC_000004.11:g.110662164C>T , CM000666.1:g.110662164C>T | GRCh37 |
| NC_000004.10:g.110881613C>T | NCBI36 |
| NG_007569.1:g.65978G>A , LRG_48:g.65978G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695844.1:n.1713+1483G>A | ||
| ENST00000695845.1:n.1712+1483G>A | ||
| ENST00000695846.1:n.1661G>A | ||
| ENST00000394634.7:c.1637G>A MANE Select | ENSP00000378130.2:p.Trp546Ter | |
| ENST00000394635.8:c.1661G>A | ENSP00000378131.3:p.Trp554Ter | |
| ENST00000645635.1:c.1534+1483G>A | ENSP00000493607.1:n.1534+1483G>A | |
| ENST00000394634.6:c.1637G>A | ENSP00000378130.2:p.Trp546Ter | |
| ENST00000394635.7:c.1661G>A | ENSP00000378131.3:p.Trp554Ter | |
| ENST00000504853.3:n.2054G>A | ||
| ENST00000512148.5:c.1616G>A | ENSP00000427438.1:p.Trp539Ter | |
| ENST00000618244.4:c.1045-203G>A | ENSP00000483416.1:n.1045-203G>A | |
| NM_000204.3:c.1637G>A , LRG_48t1:c.1637G>A | NP_000195.2:p.Trp546Ter | |
| XM_005262975.1:c.1661G>A | XP_005263032.1:p.Trp554Ter | |
| XM_005262976.1:c.1616G>A | XP_005263033.1:p.Trp539Ter | |
| XM_006714209.1:c.1658G>A | XP_006714272.1:p.Trp553Ter | |
| XM_011531920.1:c.1558+1483G>A | XP_011530222.1:n.1558+1483G>A | |
| NM_000204.4:c.1637G>A | NP_000195.2:p.Trp546Ter | |
| NM_001318057.1:c.1661G>A | NP_001304986.1:p.Trp554Ter | |
| NM_001331035.1:c.1616G>A | NP_001317964.1:p.Trp539Ter | |
| XM_011531920.2:c.1558+1483G>A | XP_011530222.1:n.1558+1483G>A | |
| XM_017008164.2:c.1534+1483G>A | XP_016863653.1:n.1534+1483G>A | |
| XM_017008165.2:c.1513+1483G>A | XP_016863654.1:n.1513+1483G>A | |
| XM_017008166.2:c.1534+1483G>A | XP_016863655.1:n.1534+1483G>A | |
| NM_001318057.2:c.1661G>A | NP_001304986.2:p.Trp554Ter | |
| NM_001331035.2:c.1616G>A | NP_001317964.1:p.Trp539Ter | |
| NM_001375278.1:c.1558+1483G>A | NP_001362207.1:n.1558+1483G>A | |
| NM_001375279.1:c.1534+1483G>A | NP_001362208.1:n.1534+1483G>A | |
| NM_001375280.1:c.1513+1483G>A | NP_001362209.1:n.1513+1483G>A | |
| NM_001375281.1:c.1534+1483G>A | NP_001362210.1:n.1534+1483G>A | |
| NM_001375282.1:c.1513+1483G>A | NP_001362211.1:n.1513+1483G>A | |
| NM_001375283.1:c.1580G>A | NP_001362212.1:p.Trp527Ter | |
| NM_001375284.1:c.1028G>A | NP_001362213.1:p.Trp343Ter | |
| NR_164671.1:n.1384G>A | ||
| NR_164672.1:n.1687G>A | ||
| NR_164673.1:n.1661G>A | ||
| NM_000204.5:c.1637G>A MANE Select | NP_000195.3:p.Trp546Ter |