Linked Data
dbSNP Id:
rs1238954251
gnomAD v2:
3-184971757-G-C
gnomAD v3:
3-185253969-G-C
gnomAD v4:
3-185253969-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185253969G>C , CM000665.2:g.185253969G>C | GRCh38 |
| NC_000003.11:g.184971757G>C , CM000665.1:g.184971757G>C | GRCh37 |
| NC_000003.10:g.186454451G>C | NCBI36 |
| NG_015999.1:g.5130C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.54C>G MANE Select | ENSP00000231887.3:p.Asn18Lys | |
| ENST00000231887.7:c.54C>G | ENSP00000231887.3:p.Asn18Lys | |
| ENST00000440662.1:c.54C>G | ENSP00000396798.1:p.Asn18Lys | |
| ENST00000456310.5:c.-358C>G | ENSP00000387746.1:n.-358C>G | |
| ENST00000465178.1:n.228-5452C>G | ||
| ENST00000475987.1:n.81C>G | ||
| NM_001166415.1:c.-358C>G | NP_001159887.1:n.-358C>G | |
| NM_001966.3:c.54C>G | NP_001957.2:p.Asn18Lys | |
| XM_006713525.1:c.-602C>G | XP_006713588.1:n.-602C>G | |
| XM_011512517.1:c.-214-5452C>G | XP_011510819.1:n.-214-5452C>G | |
| NM_001966.4:c.54C>G MANE Select | NP_001957.2:p.Asn18Lys | |
| NM_001166415.2:c.-358C>G | NP_001159887.1:n.-358C>G |