Linked Data
dbSNP Id:
rs763850644
gnomAD v2:
22-44324710-G-A
gnomAD v3:
22-43928830-G-A
gnomAD v4:
22-43928830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928830G>A , CM000684.2:g.43928830G>A | GRCh38 |
| NC_000022.10:g.44324710G>A , CM000684.1:g.44324710G>A | GRCh37 |
| NC_000022.9:g.42656043G>A | NCBI36 |
| NG_008631.1:g.10092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.427G>A MANE Select | ENSP00000216180.3:p.Val143Ile | |
| ENST00000216180.7:c.427G>A | ENSP00000216180.3:p.Val143Ile | |
| ENST00000406117.6:c.*59G>A | ENSP00000384668.2:n.*59G>A | |
| ENST00000423180.2:c.415G>A | ENSP00000397987.2:p.Val139Ile | |
| ENST00000478713.1:n.461G>A | ||
| NM_025225.2:c.427G>A | NP_079501.2:p.Val143Ile | |
| NM_025225.3:c.427G>A MANE Select | NP_079501.2:p.Val143Ile |