Linked Data
dbSNP Id:
rs759006464
ExAC:
10:73558070 A / G
gnomAD v2:
10-73558070-A-G
gnomAD v4:
10-71798313-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798313A>G , CM000672.2:g.71798313A>G | GRCh38 |
| NC_000010.10:g.73558070A>G , CM000672.1:g.73558070A>G | GRCh37 |
| NC_000010.9:g.73228076A>G | NCBI36 |
| NG_008835.1:g.406367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6830-41A>G MANE Select | ENSP00000224721.9:n.6830-41A>G | |
| ENST00000642965.1:c.763-41A>G | ENSP00000495222.1:n.763-41A>G | |
| ENST00000647092.1:c.427-41A>G | ENSP00000495176.1:n.427-41A>G | |
| ENST00000224721.10:c.6845-41A>G | ENSP00000224721.8:n.6845-41A>G | |
| ENST00000398788.4:c.110-41A>G | ENSP00000381768.3:n.110-41A>G | |
| ENST00000475158.1:n.366-41A>G | ||
| ENST00000619887.4:c.110-41A>G | ENSP00000478374.1:n.110-41A>G | |
| ENST00000622827.4:c.6830-41A>G | ENSP00000483211.1:n.6830-41A>G | |
| NM_001171933.1:c.110-41A>G | NP_001165404.1:n.110-41A>G | |
| NM_001171934.1:c.110-41A>G | NP_001165405.1:n.110-41A>G | |
| NM_022124.5:c.6830-41A>G | NP_071407.4:n.6830-41A>G | |
| XM_006717940.2:c.7025-41A>G | XP_006718003.1:n.7025-41A>G | |
| XM_006717942.2:c.6959-41A>G | XP_006718005.1:n.6959-41A>G | |
| XM_011540039.1:c.7022-41A>G | XP_011538341.1:n.7022-41A>G | |
| XM_011540040.1:c.7019-41A>G | XP_011538342.1:n.7019-41A>G | |
| XM_011540041.1:c.6965-41A>G | XP_011538343.1:n.6965-41A>G | |
| XM_011540042.1:c.6935-41A>G | XP_011538344.1:n.6935-41A>G | |
| XM_011540043.1:c.7025-41A>G | XP_011538345.1:n.7025-41A>G | |
| XM_011540044.1:c.6890-41A>G | XP_011538346.1:n.6890-41A>G | |
| XM_011540045.1:c.7025-41A>G | XP_011538347.1:n.7025-41A>G | |
| XM_011540046.1:c.6485-41A>G | XP_011538348.1:n.6485-41A>G | |
| XM_011540047.1:c.5843-41A>G | XP_011538349.1:n.5843-41A>G | |
| XM_011540052.1:c.3353-41A>G | XP_011538354.1:n.3353-41A>G | |
| NM_022124.6:c.6830-41A>G MANE Select | NP_071407.4:n.6830-41A>G |