Linked Data
ClinVar Variation Id:
2963327
ClinVar RCV Id:
RCV003822981
dbSNP Id:
rs1973884034
gnomAD v3:
19-7166146-A-T
gnomAD v4:
19-7166146-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7166146A>T , CM000681.2:g.7166146A>T | GRCh38 |
| NC_000019.9:g.7166157A>T , CM000681.1:g.7166157A>T | GRCh37 |
| NC_000019.8:g.7117157A>T | NCBI36 |
| NG_008852.2:g.132855T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.1861+8T>A MANE Select | ENSP00000303830.4:n.1861+8T>A | |
| ENST00000302850.9:c.1861+8T>A | ENSP00000303830.4:n.1861+8T>A | |
| ENST00000341500.9:c.1861+8T>A | ENSP00000342838.4:n.1861+8T>A | |
| ENST00000598216.1:n.1836+8T>A | ||
| ENST00000600492.1:c.262+8T>A | ENSP00000473170.1:n.262+8T>A | |
| NM_000208.2:c.1861+8T>A | NP_000199.2:n.1861+8T>A | |
| NM_000208.3:c.1861+8T>A | NP_000199.2:n.1861+8T>A | |
| NM_001079817.1:c.1861+8T>A | NP_001073285.1:n.1861+8T>A | |
| NM_001079817.2:c.1861+8T>A | NP_001073285.1:n.1861+8T>A | |
| XM_011527988.1:c.1939+8T>A | XP_011526290.1:n.1939+8T>A | |
| XM_011527989.1:c.1939+8T>A | XP_011526291.1:n.1939+8T>A | |
| XM_011527988.2:c.1861+8T>A | XP_011526290.2:n.1861+8T>A | |
| XM_011527989.3:c.1861+8T>A | XP_011526291.2:n.1861+8T>A | |
| NM_000208.4:c.1861+8T>A MANE Select | NP_000199.2:n.1861+8T>A | |
| NM_001079817.3:c.1861+8T>A | NP_001073285.1:n.1861+8T>A |