Linked Data
ClinVar Variation Id:
1756777
ClinVar RCV Id:
RCV002364919
dbSNP Id:
rs1441106443
gnomAD v2:
19-45412255-G-A
gnomAD v4:
19-44908998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908998G>A , CM000681.2:g.44908998G>A | GRCh38 |
| NC_000019.9:g.45412255G>A , CM000681.1:g.45412255G>A | GRCh37 |
| NC_000019.8:g.50104095G>A | NCBI36 |
| NG_007084.2:g.8217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.702G>A MANE Select | ENSP00000252486.3:p.Ala234= | |
| ENST00000252486.8:c.702G>A | ENSP00000252486.3:p.Ala234= | |
| ENST00000434152.5:c.780G>A | ENSP00000413653.2:p.Ala260= | |
| NM_000041.3:c.702G>A | NP_000032.1:p.Ala234= | |
| NM_001302688.1:c.780G>A | NP_001289617.1:p.Ala260= | |
| NM_001302689.1:c.702G>A | NP_001289618.1:p.Ala234= | |
| NM_001302690.1:c.702G>A | NP_001289619.1:p.Ala234= | |
| NM_001302691.1:c.702G>A | NP_001289620.1:p.Ala234= | |
| NM_000041.4:c.702G>A MANE Select | NP_000032.1:p.Ala234= | |
| NM_001302688.2:c.780G>A | NP_001289617.1:p.Ala260= | |
| NM_001302689.2:c.702G>A | NP_001289618.1:p.Ala234= | |
| NM_001302691.2:c.702G>A | NP_001289620.1:p.Ala234= | |
| NM_001302690.2:c.702G>A | NP_001289619.1:p.Ala234= |