Linked Data
ClinVar Variation Id:
337546
dbSNP Id:
rs750593383
ExAC:
2:96952511 G / A
gnomAD v2:
2-96952511-G-A
gnomAD v3:
2-96286773-G-A
gnomAD v4:
2-96286773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96286773G>A , CM000664.2:g.96286773G>A | GRCh38 |
| NC_000002.11:g.96952511G>A , CM000664.1:g.96952511G>A | GRCh37 |
| NC_000002.10:g.96316238G>A | NCBI36 |
| NG_016973.1:g.23787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.3744C>T MANE Select | ENSP00000317123.5:p.Asp1248= | |
| ENST00000652267.1:c.3744C>T | ENSP00000498933.1:p.Asp1248= | |
| ENST00000323853.9:c.3744C>T | ENSP00000317123.5:p.Asp1248= | |
| ENST00000480615.1:n.861C>T | ||
| NM_014014.4:c.3744C>T | NP_054733.2:p.Asp1248= | |
| NM_014014.5:c.3744C>T MANE Select | NP_054733.2:p.Asp1248= |