Linked Data
dbSNP Id:
rs1458301734
gnomAD v2:
19-45411944-G-A
gnomAD v4:
19-44908687-G-A
COSMIC:
COSM6427951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908687G>A , CM000681.2:g.44908687G>A | GRCh38 |
| NC_000019.9:g.45411944G>A , CM000681.1:g.45411944G>A | GRCh37 |
| NC_000019.8:g.50103784G>A | NCBI36 |
| NG_007084.2:g.7906G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.391G>A MANE Select | ENSP00000252486.3:p.Gly131Ser | |
| ENST00000252486.8:c.391G>A | ENSP00000252486.3:p.Gly131Ser | |
| ENST00000425718.1:c.391G>A | ENSP00000410423.1:p.Gly131Ser | |
| ENST00000434152.5:c.469G>A | ENSP00000413653.2:p.Gly157Ser | |
| ENST00000446996.5:c.391G>A | ENSP00000413135.1:p.Gly131Ser | |
| NM_000041.3:c.391G>A | NP_000032.1:p.Gly131Ser | |
| NM_001302688.1:c.469G>A | NP_001289617.1:p.Gly157Ser | |
| NM_001302689.1:c.391G>A | NP_001289618.1:p.Gly131Ser | |
| NM_001302690.1:c.391G>A | NP_001289619.1:p.Gly131Ser | |
| NM_001302691.1:c.391G>A | NP_001289620.1:p.Gly131Ser | |
| NM_000041.4:c.391G>A MANE Select | NP_000032.1:p.Gly131Ser | |
| NM_001302688.2:c.469G>A | NP_001289617.1:p.Gly157Ser | |
| NM_001302689.2:c.391G>A | NP_001289618.1:p.Gly131Ser | |
| NM_001302691.2:c.391G>A | NP_001289620.1:p.Gly131Ser | |
| NM_001302690.2:c.391G>A | NP_001289619.1:p.Gly131Ser |