Linked Data
dbSNP Id:
rs760528244
ExAC:
8:11405602 G / A
gnomAD v2:
8-11405602-G-A
gnomAD v4:
8-11548093-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11548093G>A , CM000670.2:g.11548093G>A | GRCh38 |
| NC_000008.10:g.11405602G>A , CM000670.1:g.11405602G>A | GRCh37 |
| NC_000008.9:g.11443011G>A | NCBI36 |
| NG_023543.1:g.59082G>A | |
| NG_023543.2:g.59082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.388G>A | ||
| ENST00000696154.1:c.24G>A | ENSP00000512445.1:p.Met8Ile | |
| ENST00000259089.9:c.237G>A MANE Select | ENSP00000259089.4:p.Met79Ile | |
| ENST00000645242.1:c.24G>A | ENSP00000494690.1:p.Met8Ile | |
| ENST00000259089.8:c.237G>A | ENSP00000259089.4:p.Met79Ile | |
| ENST00000529894.1:c.24G>A | ENSP00000433663.1:p.Met8Ile | |
| ENST00000533828.1:n.435G>A | ||
| NM_001715.2:c.237G>A | NP_001706.2:p.Met79Ile | |
| XM_011543824.1:c.237G>A | XP_011542126.1:p.Met79Ile | |
| XM_011543825.1:c.237G>A | XP_011542127.1:p.Met79Ile | |
| XM_011543826.1:c.237G>A | XP_011542128.1:p.Met79Ile | |
| XM_011543827.1:c.24G>A | XP_011542129.1:p.Met8Ile | |
| XM_011543828.1:c.237G>A | XP_011542130.1:p.Met79Ile | |
| XM_011543829.1:c.237G>A | XP_011542131.1:p.Met79Ile | |
| NM_001330465.1:c.24G>A | NP_001317394.1:p.Met8Ile | |
| XM_011543825.3:c.237G>A | XP_011542127.1:p.Met79Ile | |
| XM_011543828.3:c.237G>A | XP_011542130.1:p.Met79Ile | |
| XM_011543829.3:c.237G>A | XP_011542131.1:p.Met79Ile | |
| NM_001715.3:c.237G>A MANE Select | NP_001706.2:p.Met79Ile | |
| NM_001330465.2:c.24G>A | NP_001317394.1:p.Met8Ile |