Linked Data
ClinVar Variation Id:
1989240
ClinVar RCV Id:
RCV002795568
dbSNP Id:
rs768619900
ExAC:
16:16263583 G / A
gnomAD v2:
16-16263583-G-A
gnomAD v3:
16-16169726-G-A
gnomAD v4:
16-16169726-G-A
COSMIC:
COSM1563230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169726G>A , CM000678.2:g.16169726G>A | GRCh38 |
| NC_000016.9:g.16263583G>A , CM000678.1:g.16263583G>A | GRCh37 |
| NC_000016.8:g.16171084G>A | NCBI36 |
| NG_007558.2:g.58746C>T | |
| NG_007558.3:g.58892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2915C>T | ENSP00000483331.2:p.Ala972Val | |
| ENST00000205557.12:c.2915C>T MANE Select | ENSP00000205557.7:p.Ala972Val | |
| ENST00000205557.11:c.2915C>T | ENSP00000205557.7:p.Ala972Val | |
| ENST00000456970.6:c.2740C>T | ENSP00000405002.2:n.2740C>T | |
| ENST00000622290.4:c.*124C>T | ENSP00000483331.1:n.*124C>T | |
| NM_001171.5:c.2915C>T | NP_001162.4:p.Ala972Val | |
| XM_011522479.1:c.2882C>T | XP_011520781.1:p.Ala961Val | |
| XM_011522480.1:c.2573C>T | XP_011520782.1:p.Ala858Val | |
| XM_011522481.1:c.2573C>T | XP_011520783.1:p.Ala858Val | |
| XR_932836.1:n.3150C>T | ||
| XR_932837.1:n.3151C>T | ||
| XR_932838.1:n.3151C>T | ||
| NM_001351800.1:c.2573C>T | NP_001338729.1:p.Ala858Val | |
| NR_147784.1:n.2777C>T | ||
| XM_011522479.2:c.2882C>T | XP_011520781.1:p.Ala961Val | |
| XM_011522481.3:c.2573C>T | XP_011520783.1:p.Ala858Val | |
| XM_017023212.1:c.2747C>T | XP_016878701.1:p.Ala916Val | |
| XM_017023214.1:c.2915C>T | XP_016878703.1:p.Ala972Val | |
| XM_024450261.1:c.2951C>T | XP_024306029.1:p.Ala984Val | |
| XR_932836.2:n.3096C>T | ||
| XR_932837.3:n.3096C>T | ||
| XR_932838.3:n.3096C>T | ||
| NM_001171.6:c.2915C>T MANE Select | NP_001162.5:p.Ala972Val |