Linked Data
ClinVar Variation Id:
8742
ClinVar RCV Id:
RCV000009281
RCV000456631
RCV000573113
RCV000790927
RCV001818148
RCV003315222
RCV003473060
dbSNP Id:
rs9809219
ExAC:
5:251215 C / T
gnomAD v2:
5-251215-C-T
gnomAD v3:
5-251100-C-T
gnomAD v4:
5-251100-C-T
COSMIC:
COSM3854610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.251100C>T , CM000667.2:g.251100C>T | GRCh38 |
| NC_000005.9:g.251215C>T , CM000667.1:g.251215C>T | GRCh37 |
| NC_000005.8:g.304215C>T | NCBI36 |
| NG_012339.1:g.37860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1660C>T MANE Select | ENSP00000264932.6:p.Arg554Trp | |
| ENST00000651543.1:c.*393C>T | ENSP00000499215.1:n.*393C>T | |
| ENST00000264932.10:c.1660C>T | ENSP00000264932.6:p.Arg554Trp | |
| ENST00000503674.5:n.1832C>T | ||
| ENST00000504309.5:c.1552-3293C>T | ENSP00000426514.1:n.1552-3293C>T | |
| ENST00000505555.5:n.1700C>T | ||
| ENST00000507266.1:n.407C>T | ||
| ENST00000509082.1:n.85+57C>T | ||
| ENST00000510361.5:c.1516C>T | ENSP00000427703.1:p.Arg506Trp | |
| ENST00000511810.5:n.2407C>T | ||
| ENST00000514027.5:n.1615C>T | ||
| ENST00000515752.5:n.1246C>T | ||
| ENST00000515815.5:c.207-3258C>T | ||
| ENST00000617470.4:c.1225C>T | ENSP00000484230.1:p.Arg409Trp | |
| NM_001294332.1:c.1516C>T | NP_001281261.1:p.Arg506Trp | |
| NM_004168.3:c.1660C>T | NP_004159.2:p.Arg554Trp | |
| XM_005248331.2:c.1552-3293C>T | XP_005248388.1:n.1552-3293C>T | |
| XM_011514072.1:c.1660C>T | XP_011512374.1:p.Arg554Trp | |
| XM_011514073.1:c.1552-3293C>T | XP_011512375.1:n.1552-3293C>T | |
| XR_925638.1:n.1793C>T | ||
| NM_001330758.1:c.1552-3293C>T | NP_001317687.1:n.1552-3293C>T | |
| XM_011514072.2:c.1660C>T | XP_011512374.1:p.Arg554Trp | |
| XM_011514073.2:c.1552-3293C>T | XP_011512375.1:n.1552-3293C>T | |
| XM_017009685.2:c.1660C>T | XP_016865174.1:p.Arg554Trp | |
| XM_024446143.1:c.1516C>T | XP_024301911.1:p.Arg506Trp | |
| XR_002956167.1:n.1707C>T | ||
| NM_004168.4:c.1660C>T MANE Select | NP_004159.2:p.Arg554Trp | |
| NM_001294332.2:c.1516C>T | NP_001281261.1:p.Arg506Trp | |
| NM_001330758.2:c.1552-3293C>T | NP_001317687.1:n.1552-3293C>T |