Linked Data
dbSNP Id:
rs751751103
ExAC:
12:132425871 G / C
gnomAD v2:
12-132425871-G-C
gnomAD v4:
12-131941326-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941326G>C , CM000674.2:g.131941326G>C | GRCh38 |
| NC_000012.11:g.132425871G>C , CM000674.1:g.132425871G>C | GRCh37 |
| NC_000012.10:g.130991824G>C | NCBI36 |
| NG_013039.1:g.17127G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.579G>C MANE Select | ENSP00000365837.3:p.Lys193Asn | |
| ENST00000322060.9:c.495G>C | ENSP00000324726.5:p.Lys165Asn | |
| ENST00000376649.7:c.579G>C | ENSP00000365837.3:p.Lys193Asn | |
| ENST00000443358.6:c.495G>C | ENSP00000392451.2:p.Lys165Asn | |
| ENST00000535067.5:c.358-2213G>C | ENSP00000443969.1:n.358-2213G>C | |
| ENST00000537484.1:c.504G>C | ENSP00000440179.1:p.Lys168Asn | |
| ENST00000542167.2:c.420G>C | ENSP00000438948.1:p.Lys140Asn | |
| ENST00000543754.1:n.400G>C | ||
| NM_001002019.2:c.495G>C | NP_001002019.1:p.Lys165Asn | |
| NM_001002020.2:c.495G>C | NP_001002020.1:p.Lys165Asn | |
| NM_025215.5:c.579G>C | NP_079491.2:p.Lys193Asn | |
| XM_011538768.1:c.180G>C | XP_011537070.1:p.Lys60Asn | |
| XM_011538768.3:c.180G>C | XP_011537070.1:p.Lys60Asn | |
| XR_001748872.1:n.1034G>C | ||
| NM_001002019.3:c.495G>C | NP_001002019.1:p.Lys165Asn | |
| NM_001002020.3:c.495G>C | NP_001002020.1:p.Lys165Asn | |
| NM_025215.6:c.579G>C MANE Select | NP_079491.2:p.Lys193Asn |