Linked Data
dbSNP Id:
rs6050469
gnomAD v2:
20-2575369-G-A
gnomAD v3:
20-2594723-G-A
gnomAD v4:
20-2594723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2594723G>A , CM000682.2:g.2594723G>A | GRCh38 |
| NC_000020.10:g.2575369G>A , CM000682.1:g.2575369G>A | GRCh37 |
| NC_000020.9:g.2523369G>A | NCBI36 |
| NG_042834.1:g.63117G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358864.2:c.934-102G>A MANE Select | ENSP00000351732.1:n.934-102G>A | |
| ENST00000644205.1:n.1093-102G>A | ||
| ENST00000358864.1:c.934-102G>A | ENSP00000351732.1:n.934-102G>A | |
| NM_080751.2:c.934-102G>A | NP_542789.2:n.934-102G>A | |
| XM_005260660.2:c.1009-102G>A | XP_005260717.1:n.1009-102G>A | |
| XM_005260660.4:c.1009-102G>A | XP_005260717.1:n.1009-102G>A | |
| XR_001754152.1:n.1143-102G>A | ||
| NM_080751.3:c.934-102G>A MANE Select | NP_542789.2:n.934-102G>A |