Linked Data
dbSNP Id:
rs550346134
ExAC:
19:7117040 T / C
gnomAD v2:
19-7117040-T-C
gnomAD v3:
19-7117029-T-C
gnomAD v4:
19-7117029-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117029T>C , CM000681.2:g.7117029T>C | GRCh38 |
| NC_000019.9:g.7117040T>C , CM000681.1:g.7117040T>C | GRCh37 |
| NC_000019.8:g.7068040T>C | NCBI36 |
| NG_008852.2:g.181972A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.*27A>G MANE Select | ENSP00000303830.4:n.*27A>G | |
| ENST00000302850.9:c.*27A>G | ENSP00000303830.4:n.*27A>G | |
| ENST00000341500.9:c.*27A>G | ENSP00000342838.4:n.*27A>G | |
| NM_000208.2:c.*27A>G | NP_000199.2:n.*27A>G | |
| NM_000208.3:c.*27A>G | NP_000199.2:n.*27A>G | |
| NM_001079817.1:c.*27A>G | NP_001073285.1:n.*27A>G | |
| NM_001079817.2:c.*27A>G | NP_001073285.1:n.*27A>G | |
| XM_011527988.1:c.*27A>G | XP_011526290.1:n.*27A>G | |
| XM_011527989.1:c.*27A>G | XP_011526291.1:n.*27A>G | |
| XM_011527988.2:c.*27A>G | XP_011526290.2:n.*27A>G | |
| XM_011527989.3:c.*27A>G | XP_011526291.2:n.*27A>G | |
| NM_000208.4:c.*27A>G MANE Select | NP_000199.2:n.*27A>G | |
| NM_001079817.3:c.*27A>G | NP_001073285.1:n.*27A>G |