Linked Data
ClinVar Variation Id:
375650
ClinVar RCV Id:
RCV000417145
dbSNP Id:
rs1057519600
PubMed:
PMID:28007905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41268048C>A , CM000666.2:g.41268048C>A | GRCh38 |
| NC_000004.11:g.41270065C>A , CM000666.1:g.41270065C>A | GRCh37 |
| NC_000004.10:g.40964822C>A | NCBI36 |
| NG_012931.1:g.16168C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284440.9:c.647C>A MANE Select | ENSP00000284440.4:p.Ala216Asp | |
| ENST00000284440.8:c.647C>A | ENSP00000284440.4:p.Ala216Asp | |
| ENST00000381760.8:n.1198C>A | ||
| ENST00000472501.5:n.1171C>A | ||
| ENST00000503431.5:c.647C>A | ENSP00000422542.1:p.Ala216Asp | |
| ENST00000505232.5:c.*172C>A | ENSP00000423348.1:n.*172C>A | |
| ENST00000508768.5:c.599C>A | ENSP00000426895.1:p.Ala200Asp | |
| ENST00000512419.5:c.*436C>A | ENSP00000425714.1:n.*436C>A | |
| ENST00000512788.1:c.676C>A | ENSP00000423623.1:p.Pro226Thr | |
| ENST00000514764.5:n.481C>A | ||
| NM_004181.4:c.647C>A | NP_004172.2:p.Ala216Asp | |
| NM_004181.5:c.647C>A MANE Select | NP_004172.2:p.Ala216Asp |