Linked Data
dbSNP Id:
rs112745620
ExAC:
17:10543021 A / G
gnomAD v2:
17-10543021-A-G
gnomAD v3:
17-10639704-A-G
gnomAD v4:
17-10639704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639704A>G , CM000679.2:g.10639704A>G | GRCh38 |
| NC_000017.10:g.10543021A>G , CM000679.1:g.10543021A>G | GRCh37 |
| NC_000017.9:g.10483746A>G | NCBI36 |
| NG_011537.1:g.22595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2781T>C MANE Select | ENSP00000464317.1:p.Ala927= | |
| ENST00000583535.5:c.2781T>C | ENSP00000464317.1:p.Ala927= | |
| NM_002470.3:c.2781T>C | NP_002461.2:p.Ala927= | |
| XM_011523870.1:c.2781T>C | XP_011522172.1:p.Ala927= | |
| XM_011523871.1:c.2781T>C | XP_011522173.1:p.Ala927= | |
| XM_011523872.1:c.2781T>C | XP_011522174.1:p.Ala927= | |
| XM_011523870.3:c.2781T>C | XP_011522172.1:p.Ala927= | |
| XM_011523871.2:c.2781T>C | XP_011522173.1:p.Ala927= | |
| NM_002470.4:c.2781T>C MANE Select | NP_002461.2:p.Ala927= |