Linked Data
ClinVar Variation Id:
502427
dbSNP Id:
rs200753815
ExAC:
2:219677013 C / T
gnomAD v2:
2-219677013-C-T
gnomAD v3:
2-218812290-C-T
gnomAD v4:
2-218812290-C-T
COSMIC:
COSM1249572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812290C>T , CM000664.2:g.218812290C>T | GRCh38 |
| NC_000002.11:g.219677013C>T , CM000664.1:g.219677013C>T | GRCh37 |
| NC_000002.10:g.219385257C>T | NCBI36 |
| NG_007959.1:g.35542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.515C>T MANE Select | ENSP00000258415.4:p.Ala172Val | |
| ENST00000258415.8:c.515C>T | ENSP00000258415.4:p.Ala172Val | |
| ENST00000411688.1:c.233C>T | ENSP00000392671.1:p.Ala78Val | |
| ENST00000445971.1:c.324C>T | ENSP00000404945.1:p.Ser108= | |
| ENST00000466602.1:n.333C>T | ||
| ENST00000494263.5:n.949C>T | ||
| NM_000784.3:c.515C>T | NP_000775.1:p.Ala172Val | |
| XM_017003488.2:c.95C>T | XP_016858977.1:p.Ala32Val | |
| NM_000784.4:c.515C>T MANE Select | NP_000775.1:p.Ala172Val |