Linked Data
dbSNP Id:
rs761321726
ExAC:
21:46896315 A / C
gnomAD v2:
21-46896315-A-C
gnomAD v4:
21-45476401-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45476401A>C , CM000683.2:g.45476401A>C | GRCh38 |
| NC_000021.8:g.46896315A>C , CM000683.1:g.46896315A>C | GRCh37 |
| NC_000021.7:g.45720743A>C | NCBI36 |
| NG_011903.1:g.76219A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.1389A>C | ENSP00000347665.5:p.Pro463= | |
| ENST00000651438.1:c.849A>C MANE Select | ENSP00000498485.1:p.Pro283= | |
| ENST00000355480.9:c.1389A>C | ENSP00000347665.5:p.Pro463= | |
| ENST00000359759.8:c.2094A>C | ENSP00000352798.4:p.Pro698= | |
| ENST00000400337.6:c.849A>C | ENSP00000383191.2:p.Pro283= | |
| NM_030582.3:c.1389A>C | NP_085059.2:p.Pro463= | |
| NM_130444.2:c.2094A>C | NP_569711.2:p.Pro698= | |
| NM_130445.3:c.849A>C | NP_569712.2:p.Pro283= | |
| NM_030582.4:c.1389A>C | NP_085059.2:p.Pro463= | |
| NM_130444.3:c.2094A>C | NP_569711.2:p.Pro698= | |
| NM_130445.4:c.849A>C | NP_569712.2:p.Pro283= | |
| NM_001379500.1:c.849A>C MANE Select | NP_001366429.1:p.Pro283= |