Linked Data
dbSNP Id:
rs1430341438
gnomAD v2:
19-7165853-G-A
gnomAD v3:
19-7165842-G-A
gnomAD v4:
19-7165842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7165842G>A , CM000681.2:g.7165842G>A | GRCh38 |
| NC_000019.9:g.7165853G>A , CM000681.1:g.7165853G>A | GRCh37 |
| NC_000019.8:g.7116853G>A | NCBI36 |
| NG_008852.2:g.133159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.1861+312C>T MANE Select | ENSP00000303830.4:n.1861+312C>T | |
| ENST00000302850.9:c.1861+312C>T | ENSP00000303830.4:n.1861+312C>T | |
| ENST00000341500.9:c.1861+312C>T | ENSP00000342838.4:n.1861+312C>T | |
| ENST00000598216.1:n.1836+312C>T | ||
| ENST00000600492.1:c.262+312C>T | ENSP00000473170.1:n.262+312C>T | |
| NM_000208.2:c.1861+312C>T | NP_000199.2:n.1861+312C>T | |
| NM_000208.3:c.1861+312C>T | NP_000199.2:n.1861+312C>T | |
| NM_001079817.1:c.1861+312C>T | NP_001073285.1:n.1861+312C>T | |
| NM_001079817.2:c.1861+312C>T | NP_001073285.1:n.1861+312C>T | |
| XM_011527988.1:c.1939+312C>T | XP_011526290.1:n.1939+312C>T | |
| XM_011527989.1:c.1939+312C>T | XP_011526291.1:n.1939+312C>T | |
| XM_011527988.2:c.1861+312C>T | XP_011526290.2:n.1861+312C>T | |
| XM_011527989.3:c.1861+312C>T | XP_011526291.2:n.1861+312C>T | |
| NM_000208.4:c.1861+312C>T MANE Select | NP_000199.2:n.1861+312C>T | |
| NM_001079817.3:c.1861+312C>T | NP_001073285.1:n.1861+312C>T |