Linked Data
dbSNP Id:
rs2074429
gnomAD v3:
17-37701292-T-C
gnomAD v4:
17-37701292-T-C
MyVariant Identifiers:
chr17:g.37701292T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37701292T>C , CM000679.2:g.37701292T>C | GRCh38 |
| NG_013019.2:g.48815A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.1340-115A>G MANE Select | ENSP00000480291.1:n.1340-115A>G | |
| ENST00000613727.4:c.1261+3625A>G | ENSP00000477524.1:n.1261+3625A>G | |
| ENST00000614313.4:c.1340-115A>G | ENSP00000482529.1:n.1340-115A>G | |
| ENST00000617272.4:c.*63-115A>G | ENSP00000478682.1:n.*63-115A>G | |
| ENST00000617811.4:c.1340-115A>G | ENSP00000480291.1:n.1340-115A>G | |
| ENST00000621123.4:c.1262-115A>G | ENSP00000482711.1:n.1262-115A>G | |
| NM_000458.3:c.1340-115A>G | NP_000449.1:n.1340-115A>G | |
| NM_001165923.3:c.1262-115A>G | NP_001159395.1:n.1262-115A>G | |
| NM_001304286.1:c.1261+3625A>G | NP_001291215.1:n.1261+3625A>G | |
| XM_011525160.1:c.1340-115A>G | XP_011523462.1:n.1340-115A>G | |
| XM_011525161.1:c.1340-2098A>G | XP_011523463.1:n.1340-2098A>G | |
| XM_011525164.1:c.1262-115A>G | XP_011523466.1:n.1262-115A>G | |
| NM_000458.4:c.1340-115A>G MANE Select | NP_000449.1:n.1340-115A>G | |
| NM_001165923.4:c.1262-115A>G | NP_001159395.1:n.1262-115A>G | |
| NM_001304286.2:c.1261+3625A>G | NP_001291215.1:n.1261+3625A>G |