Linked Data
ClinVar Variation Id:
1750497
ClinVar RCV Id:
RCV002355801
dbSNP Id:
rs928986800
gnomAD v4:
19-44908887-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908887G>A , CM000681.2:g.44908887G>A | GRCh38 |
| NC_000019.9:g.45412144G>A , CM000681.1:g.45412144G>A | GRCh37 |
| NC_000019.8:g.50103984G>A | NCBI36 |
| NG_007084.2:g.8106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.591G>A MANE Select | ENSP00000252486.3:p.Glu197= | |
| ENST00000252486.8:c.591G>A | ENSP00000252486.3:p.Glu197= | |
| ENST00000425718.1:c.591G>A | ENSP00000410423.1:p.Glu197= | |
| ENST00000434152.5:c.669G>A | ENSP00000413653.2:p.Glu223= | |
| ENST00000446996.5:c.591G>A | ENSP00000413135.1:p.Glu197= | |
| NM_000041.3:c.591G>A | NP_000032.1:p.Glu197= | |
| NM_001302688.1:c.669G>A | NP_001289617.1:p.Glu223= | |
| NM_001302689.1:c.591G>A | NP_001289618.1:p.Glu197= | |
| NM_001302690.1:c.591G>A | NP_001289619.1:p.Glu197= | |
| NM_001302691.1:c.591G>A | NP_001289620.1:p.Glu197= | |
| NM_000041.4:c.591G>A MANE Select | NP_000032.1:p.Glu197= | |
| NM_001302688.2:c.669G>A | NP_001289617.1:p.Glu223= | |
| NM_001302689.2:c.591G>A | NP_001289618.1:p.Glu197= | |
| NM_001302691.2:c.591G>A | NP_001289620.1:p.Glu197= | |
| NM_001302690.2:c.591G>A | NP_001289619.1:p.Glu197= |