Linked Data
dbSNP Id:
rs369527452
ExAC:
3:119132869 C / G
gnomAD v2:
3-119132869-C-G
gnomAD v3:
3-119414022-C-G
gnomAD v4:
3-119414022-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414022C>G , CM000665.2:g.119414022C>G | GRCh38 |
| NC_000003.11:g.119132869C>G , CM000665.1:g.119132869C>G | GRCh37 |
| NC_000003.10:g.120615559C>G | NCBI36 |
| NG_007665.2:g.124650C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2093C>G MANE Select | ENSP00000264245.4:p.Pro698Arg | |
| ENST00000264245.8:c.2093C>G | ENSP00000264245.4:p.Pro698Arg | |
| NM_020754.3:c.2093C>G | NP_065805.2:p.Pro698Arg | |
| XM_005247671.3:c.2000C>G | XP_005247728.1:p.Pro667Arg | |
| XM_006713714.2:c.2033C>G | XP_006713777.1:p.Pro678Arg | |
| XM_006713714.3:c.2033C>G | XP_006713777.1:p.Pro678Arg | |
| XM_017006955.1:c.1601C>G | XP_016862444.1:p.Pro534Arg | |
| NM_020754.4:c.2093C>G MANE Select | NP_065805.2:p.Pro698Arg |