Linked Data
dbSNP Id:
rs199599404
ExAC:
19:7117259 C / T
gnomAD v2:
19-7117259-C-T
gnomAD v3:
19-7117248-C-T
gnomAD v4:
19-7117248-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117248C>T , CM000681.2:g.7117248C>T | GRCh38 |
| NC_000019.9:g.7117259C>T , CM000681.1:g.7117259C>T | GRCh37 |
| NC_000019.8:g.7068259C>T | NCBI36 |
| NG_008852.2:g.181753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3957G>A MANE Select | ENSP00000303830.4:p.Met1319Ile | |
| ENST00000302850.9:c.3957G>A | ENSP00000303830.4:p.Met1319Ile | |
| ENST00000341500.9:c.3921G>A | ENSP00000342838.4:p.Met1307Ile | |
| NM_000208.2:c.3957G>A | NP_000199.2:p.Met1319Ile | |
| NM_000208.3:c.3957G>A | NP_000199.2:p.Met1319Ile | |
| NM_001079817.1:c.3921G>A | NP_001073285.1:p.Met1307Ile | |
| NM_001079817.2:c.3921G>A | NP_001073285.1:p.Met1307Ile | |
| XM_011527988.1:c.4032G>A | XP_011526290.1:p.Met1344Ile | |
| XM_011527989.1:c.3996G>A | XP_011526291.1:p.Met1332Ile | |
| XM_011527988.2:c.3954G>A | XP_011526290.2:p.Met1318Ile | |
| XM_011527989.3:c.3918G>A | XP_011526291.2:p.Met1306Ile | |
| NM_000208.4:c.3957G>A MANE Select | NP_000199.2:p.Met1319Ile | |
| NM_001079817.3:c.3921G>A | NP_001073285.1:p.Met1307Ile |