Linked Data
dbSNP Id:
rs782348605
ExAC:
1:147380359 G / A
gnomAD v2:
1-147380359-G-A
gnomAD v4:
1-147908232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908232G>A , CM000663.2:g.147908232G>A | GRCh38 |
| NC_000001.10:g.147380359G>A , CM000663.1:g.147380359G>A | GRCh37 |
| NC_000001.9:g.145846983G>A | NCBI36 |
| NG_016242.1:g.10414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.277G>A MANE Select | ENSP00000358238.1:p.Val93Met | |
| ENST00000369235.1:c.277G>A | ENSP00000358238.1:p.Val93Met | |
| NM_005267.4:c.277G>A | NP_005258.2:p.Val93Met | |
| XM_011509416.1:c.277G>A | XP_011507718.1:p.Val93Met | |
| XM_011509417.1:c.277G>A | XP_011507719.1:p.Val93Met | |
| XM_011509417.2:c.277G>A | XP_011507719.1:p.Val93Met | |
| XR_002956281.1:n.1192G>A | ||
| NM_005267.5:c.277G>A MANE Select | NP_005258.2:p.Val93Met |