Linked Data
ClinVar Variation Id:
1406351
ClinVar RCV Id:
RCV001935408
dbSNP Id:
rs1184220259
gnomAD v4:
14-28767640-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767640G>C , CM000676.2:g.28767640G>C | GRCh38 |
| NC_000014.8:g.29236846G>C , CM000676.1:g.29236846G>C | GRCh37 |
| NC_000014.7:g.28306597G>C | NCBI36 |
| NG_009367.1:g.5560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.361G>C | ENSP00000516406.1:p.Ala121Pro | |
| ENST00000313071.7:c.361G>C MANE Select | ENSP00000339004.3:p.Ala121Pro | |
| ENST00000313071.6:c.361G>C | ENSP00000339004.3:p.Ala121Pro | |
| NM_005249.4:c.361G>C | NP_005240.3:p.Ala121Pro | |
| NM_005249.5:c.361G>C MANE Select | NP_005240.3:p.Ala121Pro |