Linked Data
ClinVar Variation Id:
489631
dbSNP Id:
rs773230722
gnomAD v2:
3-52436311-C-A
gnomAD v4:
3-52402295-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52402295C>A , CM000665.2:g.52402295C>A | GRCh38 |
| NC_000003.11:g.52436311C>A , CM000665.1:g.52436311C>A | GRCh37 |
| NC_000003.10:g.52411351C>A | NCBI36 |
| NG_031859.1:g.12699G>T , LRG_529:g.12699G>T | |
| NG_052911.1:g.90977C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.2183G>T MANE Select | ENSP00000417132.1:p.Arg728Leu | |
| ENST00000296288.9:c.2129G>T | ENSP00000296288.5:p.Arg710Leu | |
| ENST00000460680.5:c.2183G>T | ENSP00000417132.1:p.Arg728Leu | |
| ENST00000466093.1:n.856G>T | ||
| ENST00000469613.5:c.382G>T | ||
| ENST00000478368.1:c.755G>T | ENSP00000420647.1:p.Arg252Leu | |
| NM_004656.3:c.2183G>T | NP_004647.1:p.Arg728Leu | |
| XM_011534149.1:c.2252G>T | XP_011532451.1:p.Arg751Leu | |
| XM_011534150.1:c.2207G>T | XP_011532452.1:p.Arg736Leu | |
| XM_011534151.1:c.2198G>T | XP_011532453.1:p.Arg733Leu | |
| XM_011534152.1:c.2138G>T | XP_011532454.1:p.Arg713Leu | |
| XM_011534149.3:c.2252G>T | XP_011532451.1:p.Arg751Leu | |
| XM_011534150.3:c.2207G>T | XP_011532452.1:p.Arg736Leu | |
| XM_011534151.3:c.2198G>T | XP_011532453.1:p.Arg733Leu | |
| XM_011534152.2:c.2138G>T | XP_011532454.1:p.Arg713Leu | |
| XM_017007303.2:c.2129G>T | XP_016862792.1:p.Arg710Leu | |
| NM_004656.4:c.2183G>T MANE Select | NP_004647.1:p.Arg728Leu |