Linked Data
dbSNP Id:
rs201793444
ExAC:
3:184971810 T / C
gnomAD v2:
3-184971810-T-C
gnomAD v3:
3-185254022-T-C
gnomAD v4:
3-185254022-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254022T>C , CM000665.2:g.185254022T>C | GRCh38 |
| NC_000003.11:g.184971810T>C , CM000665.1:g.184971810T>C | GRCh37 |
| NC_000003.10:g.186454504T>C | NCBI36 |
| NG_015999.1:g.5077A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.1A>G MANE Select | ENSP00000231887.3:p.Met1Val | |
| ENST00000231887.7:c.1A>G | ENSP00000231887.3:p.Met1Val | |
| ENST00000440662.1:c.1A>G | ENSP00000396798.1:p.Met1Val | |
| ENST00000456310.5:c.-411A>G | ENSP00000387746.1:n.-411A>G | |
| ENST00000465178.1:n.228-5505A>G | ||
| ENST00000475987.1:n.28A>G | ||
| NM_001166415.1:c.-411A>G | NP_001159887.1:n.-411A>G | |
| NM_001966.3:c.1A>G | NP_001957.2:p.Met1Val | |
| XM_006713525.1:c.-655A>G | XP_006713588.1:n.-655A>G | |
| XM_011512517.1:c.-214-5505A>G | XP_011510819.1:n.-214-5505A>G | |
| NM_001966.4:c.1A>G MANE Select | NP_001957.2:p.Met1Val | |
| NM_001166415.2:c.-411A>G | NP_001159887.1:n.-411A>G |