Linked Data
dbSNP Id:
rs777629132
ExAC:
9:127262869 G / C
gnomAD v2:
9-127262869-G-C
gnomAD v4:
9-124500590-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124500590G>C , CM000671.2:g.124500590G>C | GRCh38 |
| NC_000009.11:g.127262869G>C , CM000671.1:g.127262869G>C | GRCh37 |
| NC_000009.10:g.126302690G>C | NCBI36 |
| NG_008176.1:g.11831C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.370C>G MANE Select | ENSP00000362690.4:p.Pro124Ala | |
| ENST00000373587.3:c.40-318C>G | ENSP00000362689.3:n.40-318C>G | |
| ENST00000373588.8:c.370C>G | ENSP00000362690.4:p.Pro124Ala | |
| ENST00000455734.1:c.370C>G | ENSP00000393245.1:p.Pro124Ala | |
| ENST00000620110.4:c.370C>G | ENSP00000483309.1:p.Pro124Ala | |
| NM_004959.4:c.370C>G | NP_004950.2:p.Pro124Ala | |
| XM_005251871.2:c.370C>G | XP_005251928.1:p.Pro124Ala | |
| XM_005251872.3:c.109C>G | XP_005251929.1:p.Pro37Ala | |
| XM_011518455.1:c.370C>G | XP_011516757.1:p.Pro124Ala | |
| XM_011518456.1:c.370C>G | XP_011516758.1:p.Pro124Ala | |
| NM_004959.5:c.370C>G MANE Select | NP_004950.2:p.Pro124Ala |