Linked Data
ClinVar Variation Id:
1961379
ClinVar RCV Id:
RCV002734837
dbSNP Id:
rs749413889
ExAC:
5:131726481 C / T
gnomAD v2:
5-131726481-C-T
gnomAD v3:
5-132390789-C-T
gnomAD v4:
5-132390789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390789C>T , CM000667.2:g.132390789C>T | GRCh38 |
| NC_000005.9:g.131726481C>T , CM000667.1:g.131726481C>T | GRCh37 |
| NC_000005.8:g.131754380C>T | NCBI36 |
| NG_008982.1:g.26081C>T | |
| NG_008982.2:g.26086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.993C>T | ENSP00000388838.2:p.Val331= | |
| ENST00000435065.7:c.1224C>T | ENSP00000402760.2:p.Val408= | |
| ENST00000448810.6:c.*4C>T | ENSP00000401860.2:n.*4C>T | |
| ENST00000685543.1:n.1293C>T | ||
| ENST00000686757.1:c.*316C>T | ENSP00000510721.1:n.*316C>T | |
| ENST00000687740.1:n.3837C>T | ||
| ENST00000688151.1:n.2462C>T | ||
| ENST00000689271.1:c.999C>T | ENSP00000510797.1:p.Val333= | |
| ENST00000690900.1:c.*316C>T | ENSP00000510703.1:n.*316C>T | |
| ENST00000692212.1:n.2764C>T | ||
| ENST00000692355.1:c.405C>T | ||
| ENST00000692413.1:c.1134C>T | ENSP00000509374.1:p.Val378= | |
| ENST00000692825.1:c.1220C>T | ENSP00000509447.1:n.1220C>T | |
| ENST00000693308.1:c.1200C>T | ENSP00000509770.1:p.Val400= | |
| ENST00000693763.1:n.2312C>T | ||
| ENST00000245407.8:c.1152C>T MANE Select | ENSP00000245407.3:p.Val384= | |
| ENST00000245407.7:c.1152C>T | ENSP00000245407.3:p.Val384= | |
| ENST00000435065.6:c.1224C>T | ENSP00000402760.2:p.Val408= | |
| ENST00000447841.5:c.112-1644C>T | ||
| ENST00000448810.5:c.414C>T | ||
| ENST00000461013.5:n.8574C>T | ||
| ENST00000475308.1:n.1830C>T | ||
| ENST00000479605.5:n.255C>T | ||
| NM_001308122.1:c.1224C>T | NP_001295051.1:p.Val408= | |
| NM_003060.3:c.1152C>T | NP_003051.1:p.Val384= | |
| XM_011543590.1:c.534C>T | XP_011541892.1:p.Val178= | |
| XR_427718.1:n.1512C>T | ||
| XR_948290.1:n.1394-1644C>T | ||
| XR_948291.1:n.1506C>T | ||
| XM_011543590.2:c.534C>T | XP_011541892.1:p.Val178= | |
| XM_017009778.2:c.624C>T | XP_016865267.1:p.Val208= | |
| XR_001742215.1:n.1407C>T | ||
| XR_001742216.1:n.1426C>T | ||
| XR_427718.2:n.1512C>T | ||
| XR_948290.2:n.1394-1644C>T | ||
| XR_948291.2:n.1506C>T | ||
| NM_003060.4:c.1152C>T MANE Select | NP_003051.1:p.Val384= | |
| NM_001308122.2:c.1224C>T | NP_001295051.1:p.Val408= |