Linked Data
dbSNP Id:
rs1227515681
gnomAD v2:
12-116413081-G-A
gnomAD v3:
12-115975276-G-A
gnomAD v4:
12-115975276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975276G>A , CM000674.2:g.115975276G>A | GRCh38 |
| NC_000012.11:g.116413081G>A , CM000674.1:g.116413081G>A | GRCh37 |
| NC_000012.10:g.114897464G>A | NCBI36 |
| NG_023366.1:g.306911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5626C>T MANE Select | ENSP00000281928.3:p.Leu1876= | |
| ENST00000548694.2:n.616C>T | ||
| ENST00000648379.1:n.3994C>T | ||
| ENST00000648737.1:n.5390C>T | ||
| ENST00000648825.1:n.3811C>T | ||
| ENST00000648916.1:n.3637C>T | ||
| ENST00000649607.1:c.3810C>T | ||
| ENST00000649775.1:c.2115C>T | ||
| ENST00000650226.1:c.5662C>T | ENSP00000496981.1:p.Leu1888= | |
| ENST00000281928.7:c.5626C>T | ENSP00000281928.3:p.Leu1876= | |
| ENST00000548694.1:n.616C>T | ||
| ENST00000552447.1:c.239C>T | ||
| NM_015335.4:c.5626C>T | NP_056150.1:p.Leu1876= | |
| XM_011538080.1:c.5662C>T | XP_011536382.1:p.Leu1888= | |
| XM_011538081.1:c.5659C>T | XP_011536383.1:p.Leu1887= | |
| XM_011538082.1:c.5632C>T | XP_011536384.1:p.Leu1878= | |
| XM_011538080.2:c.5662C>T | XP_011536382.1:p.Leu1888= | |
| XM_011538081.2:c.5659C>T | XP_011536383.1:p.Leu1887= | |
| XM_011538082.2:c.5632C>T | XP_011536384.1:p.Leu1878= | |
| XM_017019090.1:c.5623C>T | XP_016874579.1:p.Leu1875= | |
| NM_015335.5:c.5626C>T MANE Select | NP_056150.1:p.Leu1876= |