Linked Data
dbSNP Id:
rs1283967099
gnomAD v2:
3-119133051-C-G
gnomAD v3:
3-119414204-C-G
gnomAD v4:
3-119414204-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414204C>G , CM000665.2:g.119414204C>G | GRCh38 |
| NC_000003.11:g.119133051C>G , CM000665.1:g.119133051C>G | GRCh37 |
| NC_000003.10:g.120615741C>G | NCBI36 |
| NG_007665.2:g.124832C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2275C>G MANE Select | ENSP00000264245.4:p.Pro759Ala | |
| ENST00000264245.8:c.2275C>G | ENSP00000264245.4:p.Pro759Ala | |
| NM_020754.3:c.2275C>G | NP_065805.2:p.Pro759Ala | |
| XM_005247671.3:c.2182C>G | XP_005247728.1:p.Pro728Ala | |
| XM_006713714.2:c.2215C>G | XP_006713777.1:p.Pro739Ala | |
| XM_006713714.3:c.2215C>G | XP_006713777.1:p.Pro739Ala | |
| XM_017006955.1:c.1783C>G | XP_016862444.1:p.Pro595Ala | |
| NM_020754.4:c.2275C>G MANE Select | NP_065805.2:p.Pro759Ala |