Linked Data
dbSNP Id:
rs752065642
ExAC:
8:102611313 T / C
gnomAD v2:
8-102611313-T-C
gnomAD v4:
8-101599085-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101599085T>C , CM000670.2:g.101599085T>C | GRCh38 |
| NC_000008.10:g.102611313T>C , CM000670.1:g.102611313T>C | GRCh37 |
| NC_000008.9:g.102680489T>C | NCBI36 |
| NG_011971.1:g.111646T>C | |
| NG_011971.2:g.111646T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.1032T>C MANE Select | ENSP00000495564.1:p.Ile344= | |
| ENST00000251808.7:c.1032T>C | ENSP00000251808.3:p.Ile344= | |
| ENST00000395927.1:c.984T>C | ENSP00000379260.1:p.Ile328= | |
| NM_024915.3:c.1032T>C | NP_079191.2:p.Ile344= | |
| XM_011517305.1:c.984T>C | XP_011515607.1:p.Ile328= | |
| XM_011517306.1:c.984T>C | XP_011515608.1:p.Ile328= | |
| XM_011517307.1:c.1032T>C | XP_011515609.1:p.Ile344= | |
| NM_001330593.1:c.984T>C | NP_001317522.1:p.Ile328= | |
| XM_011517306.3:c.984T>C | XP_011515608.1:p.Ile328= | |
| XM_011517307.3:c.1032T>C | XP_011515609.1:p.Ile344= | |
| NM_001330593.2:c.984T>C | NP_001317522.1:p.Ile328= | |
| NM_024915.4:c.1032T>C MANE Select | NP_079191.2:p.Ile344= |