Linked Data
dbSNP Id:
rs975425740
gnomAD v2:
4-4861912-C-A
gnomAD v3:
4-4860185-C-A
gnomAD v4:
4-4860185-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860185C>A , CM000666.2:g.4860185C>A | GRCh38 |
| NC_000004.11:g.4861912C>A , CM000666.1:g.4861912C>A | GRCh37 |
| NC_000004.10:g.4912813C>A | NCBI36 |
| NG_008121.1:g.5521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.286C>A MANE Select | ENSP00000372170.4:p.Leu96Met | |
| ENST00000382723.4:c.286C>A | ENSP00000372170.4:p.Leu96Met | |
| NM_002448.3:c.286C>A MANE Select | NP_002439.2:p.Leu96Met |