Linked Data
dbSNP Id:
rs1336449715
gnomAD v2:
1-53676094-A-C
gnomAD v3:
1-53210422-A-C
gnomAD v4:
1-53210422-A-C
COSMIC:
COSM3419320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210422A>C , CM000663.2:g.53210422A>C | GRCh38 |
| NC_000001.10:g.53676094A>C , CM000663.1:g.53676094A>C | GRCh37 |
| NC_000001.9:g.53448682A>C | NCBI36 |
| NG_008035.1:g.18994A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.748A>C MANE Select | ENSP00000360541.3:p.Asn250His | |
| ENST00000635862.1:c.748A>C | ENSP00000490867.1:p.Asn250His | |
| ENST00000635888.1:c.*734A>C | ENSP00000490042.1:n.*734A>C | |
| ENST00000636239.1:c.*395A>C | ENSP00000490066.1:n.*395A>C | |
| ENST00000636867.1:c.748A>C | ENSP00000489631.1:p.Asn250His | |
| ENST00000636891.1:c.748A>C | ENSP00000490399.1:p.Asn250His | |
| ENST00000636935.1:c.341-2842A>C | ENSP00000489757.1:n.341-2842A>C | |
| ENST00000637252.1:c.748A>C | ENSP00000490492.1:p.Asn250His | |
| ENST00000637726.1:n.2948A>C | ||
| ENST00000638135.1:c.*395A>C | ENSP00000489756.1:n.*395A>C | |
| ENST00000371486.3:c.748A>C | ENSP00000360541.3:p.Asn250His | |
| NM_000098.2:c.748A>C | NP_000089.1:p.Asn250His | |
| XM_005270484.1:c.748A>C | XP_005270541.1:p.Asn250His | |
| NM_001330589.1:c.748A>C | NP_001317518.1:p.Asn250His | |
| NM_000098.3:c.748A>C MANE Select | NP_000089.1:p.Asn250His | |
| NM_001330589.2:c.748A>C | NP_001317518.1:p.Asn250His |