Linked Data
ClinVar Variation Id:
14702
ClinVar RCV Id:
RCV000015817
dbSNP Id:
rs121913152
gnomAD v4:
19-7267833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7267833A>G , CM000681.2:g.7267833A>G | GRCh38 |
| NC_000019.9:g.7267844A>G , CM000681.1:g.7267844A>G | GRCh37 |
| NC_000019.8:g.7218844A>G | NCBI36 |
| NG_008852.2:g.31168T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.164T>C MANE Select | ENSP00000303830.4:p.Val55Ala | |
| ENST00000302850.9:c.164T>C | ENSP00000303830.4:p.Val55Ala | |
| ENST00000341500.9:c.164T>C | ENSP00000342838.4:p.Val55Ala | |
| ENST00000598216.1:n.139T>C | ||
| NM_000208.2:c.164T>C | NP_000199.2:p.Val55Ala | |
| NM_000208.3:c.164T>C | NP_000199.2:p.Val55Ala | |
| NM_001079817.1:c.164T>C | NP_001073285.1:p.Val55Ala | |
| NM_001079817.2:c.164T>C | NP_001073285.1:p.Val55Ala | |
| XM_011527988.1:c.242T>C | XP_011526290.1:p.Val81Ala | |
| XM_011527989.1:c.242T>C | XP_011526291.1:p.Val81Ala | |
| XM_011527988.2:c.164T>C | XP_011526290.2:p.Val55Ala | |
| XM_011527989.3:c.164T>C | XP_011526291.2:p.Val55Ala | |
| NM_000208.4:c.164T>C MANE Select | NP_000199.2:p.Val55Ala | |
| NM_001079817.3:c.164T>C | NP_001073285.1:p.Val55Ala |