Linked Data
ClinVar Variation Id:
976783
ClinVar RCV Id:
RCV001254173
dbSNP Id:
rs1970276863
gnomAD v4:
19-12874080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12874080C>T , CM000681.2:g.12874080C>T | GRCh38 |
| NC_000019.9:g.12984894C>T , CM000681.1:g.12984894C>T | GRCh37 |
| NC_000019.8:g.12845894C>T | NCBI36 |
| NG_054729.1:g.45150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251472.9:c.3923C>T MANE Select | ENSP00000251472.3:p.Ala1308Val | |
| ENST00000251472.8:c.3923C>T | ENSP00000251472.3:p.Ala1308Val | |
| ENST00000585791.1:n.730C>T | ||
| NM_014975.2:c.3923C>T | NP_055790.1:p.Ala1308Val | |
| XM_011527805.1:c.3911C>T | XP_011526107.1:p.Ala1304Val | |
| XM_011527806.1:c.3635C>T | XP_011526108.1:p.Ala1212Val | |
| XM_011527807.1:c.3395C>T | XP_011526109.1:p.Ala1132Val | |
| XM_011527808.1:c.2591C>T | XP_011526110.1:p.Ala864Val | |
| XM_011527805.2:c.3911C>T | XP_011526107.1:p.Ala1304Val | |
| XM_011527808.2:c.2591C>T | XP_011526110.1:p.Ala864Val | |
| NM_014975.3:c.3923C>T MANE Select | NP_055790.1:p.Ala1308Val |