Linked Data
dbSNP Id:
rs2041806947
gnomAD v3:
3-39394474-G-A
gnomAD v4:
3-39394474-G-A
MyVariant Identifiers:
chr3:g.39435965G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394474G>A , CM000665.2:g.39394474G>A | GRCh38 |
| NC_000003.11:g.39435965G>A , CM000665.1:g.39435965G>A | GRCh37 |
| NC_000003.10:g.39410969G>A | NCBI36 |
| NG_016931.1:g.16151G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642683.1:c.642G>A | ENSP00000495376.1:p.Leu214= | |
| ENST00000643672.1:c.639G>A | ENSP00000494532.1:p.Leu213= | |
| ENST00000645280.1:c.636G>A | ENSP00000496690.1:p.Leu212= | |
| ENST00000648579.1:c.746G>A | ENSP00000497638.1:p.Trp249Ter | |
| ENST00000650617.1:c.690G>A MANE Select | ENSP00000497532.1:p.Leu230= | |
| ENST00000273158.8:c.690G>A | ENSP00000273158.3:p.Leu230= | |
| NM_017875.2:c.690G>A | NP_060345.2:p.Leu230= | |
| XM_006713214.1:c.678G>A | XP_006713277.1:p.Leu226= | |
| XM_011533869.1:c.672G>A | XP_011532171.1:p.Leu224= | |
| XM_011533870.1:c.639G>A | XP_011532172.1:p.Leu213= | |
| XM_011533871.1:c.510G>A | XP_011532173.1:p.Leu170= | |
| NM_001354798.1:c.626-1924G>A | NP_001341727.1:n.626-1924G>A | |
| NM_017875.4:c.690G>A MANE Select | NP_060345.2:p.Leu230= | |
| XM_006713214.2:c.678G>A | XP_006713277.1:p.Leu226= | |
| XM_011533869.2:c.672G>A | XP_011532171.1:p.Leu224= | |
| XM_024453611.1:c.636G>A | XP_024309379.1:p.Leu212= | |
| NM_001354798.2:c.626-1924G>A | NP_001341727.1:n.626-1924G>A |