Linked Data
dbSNP Id:
rs1184175382
gnomAD v2:
19-7117010-A-C
gnomAD v3:
19-7116999-A-C
gnomAD v4:
19-7116999-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7116999A>C , CM000681.2:g.7116999A>C | GRCh38 |
| NC_000019.9:g.7117010A>C , CM000681.1:g.7117010A>C | GRCh37 |
| NC_000019.8:g.7068010A>C | NCBI36 |
| NG_008852.2:g.182002T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.*57T>G MANE Select | ENSP00000303830.4:n.*57T>G | |
| ENST00000302850.9:c.*57T>G | ENSP00000303830.4:n.*57T>G | |
| ENST00000341500.9:c.*57T>G | ENSP00000342838.4:n.*57T>G | |
| NM_000208.2:c.*57T>G | NP_000199.2:n.*57T>G | |
| NM_000208.3:c.*57T>G | NP_000199.2:n.*57T>G | |
| NM_001079817.1:c.*57T>G | NP_001073285.1:n.*57T>G | |
| NM_001079817.2:c.*57T>G | NP_001073285.1:n.*57T>G | |
| XM_011527988.1:c.*57T>G | XP_011526290.1:n.*57T>G | |
| XM_011527989.1:c.*57T>G | XP_011526291.1:n.*57T>G | |
| XM_011527988.2:c.*57T>G | XP_011526290.2:n.*57T>G | |
| XM_011527989.3:c.*57T>G | XP_011526291.2:n.*57T>G | |
| NM_000208.4:c.*57T>G MANE Select | NP_000199.2:n.*57T>G | |
| NM_001079817.3:c.*57T>G | NP_001073285.1:n.*57T>G |