Linked Data
dbSNP Id:
rs3732413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414336G>C , CM000665.2:g.119414336G>C | GRCh38 |
| NC_000003.11:g.119133183G>C , CM000665.1:g.119133183G>C | GRCh37 |
| NC_000003.10:g.120615873G>C | NCBI36 |
| NG_007665.2:g.124964G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2407G>C MANE Select | ENSP00000264245.4:p.Gly803Arg | |
| ENST00000264245.8:c.2407G>C | ENSP00000264245.4:p.Gly803Arg | |
| NM_020754.3:c.2407G>C | NP_065805.2:p.Gly803Arg | |
| XM_005247671.3:c.2314G>C | XP_005247728.1:p.Gly772Arg | |
| XM_006713714.2:c.2347G>C | XP_006713777.1:p.Gly783Arg | |
| XM_006713714.3:c.2347G>C | XP_006713777.1:p.Gly783Arg | |
| XM_017006955.1:c.1915G>C | XP_016862444.1:p.Gly639Arg | |
| NM_020754.4:c.2407G>C MANE Select | NP_065805.2:p.Gly803Arg |