Linked Data
dbSNP Id:
rs769700393
ExAC:
1:47398663 T / G
gnomAD v2:
1-47398663-T-G
gnomAD v3:
1-46932991-T-G
gnomAD v4:
1-46932991-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932991T>G , CM000663.2:g.46932991T>G | GRCh38 |
| NC_000001.10:g.47398663T>G , CM000663.1:g.47398663T>G | GRCh37 |
| NC_000001.9:g.47171250T>G | NCBI36 |
| NG_007932.1:g.13494A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1279A>C MANE Select | ENSP00000311095.4:p.Asn427His | |
| ENST00000310638.8:c.1279A>C | ENSP00000311095.4:p.Asn427His | |
| ENST00000371904.8:c.1282A>C | ENSP00000360971.4:p.Asn428His | |
| ENST00000371905.1:c.1279A>C | ENSP00000360972.1:p.Asn427His | |
| ENST00000462347.5:c.985A>C | ENSP00000477495.1:p.Asn329His | |
| ENST00000465874.5:c.*77A>C | ENSP00000476368.1:n.*77A>C | |
| ENST00000468629.5:c.1127-154A>C | ENSP00000476619.1:n.1127-154A>C | |
| ENST00000474458.5:c.743-154A>C | ENSP00000476988.1:n.743-154A>C | |
| ENST00000475477.5:c.*82-154A>C | ENSP00000476854.1:n.*82-154A>C | |
| NM_000778.3:c.1279A>C | NP_000769.2:p.Asn427His | |
| XM_005270539.1:c.985A>C | XP_005270596.1:p.Asn329His | |
| XM_011540826.1:c.1297A>C | XP_011539128.1:p.Asn433His | |
| XM_011540827.1:c.1003A>C | XP_011539129.1:p.Asn335His | |
| XM_011540828.1:c.985A>C | XP_011539130.1:p.Asn329His | |
| XR_246241.1:n.1183A>C | ||
| XR_246242.1:n.1167A>C | ||
| NM_001319155.1:c.1183A>C | NP_001306084.1:p.Asn395His | |
| NM_001363587.1:c.985A>C | NP_001350516.1:p.Asn329His | |
| NR_134988.1:n.984A>C | ||
| NR_134989.1:n.1175A>C | ||
| NR_134990.1:n.1178-154A>C | ||
| NR_134991.1:n.1156A>C | ||
| NR_134992.1:n.794-154A>C | ||
| NR_134993.1:n.928-154A>C | ||
| NR_134994.1:n.1191A>C | ||
| XM_017000465.1:c.967A>C | XP_016855954.1:p.Asn323His | |
| XR_001737005.1:n.1266-154A>C | ||
| NM_000778.4:c.1279A>C MANE Select | NP_000769.2:p.Asn427His | |
| NM_001319155.2:c.1183A>C | NP_001306084.1:p.Asn395His | |
| NM_001363587.2:c.985A>C | NP_001350516.1:p.Asn329His | |
| NR_134988.2:n.976A>C | ||
| NR_134989.2:n.1167A>C | ||
| NR_134990.2:n.1170-154A>C | ||
| NR_134991.2:n.1148A>C | ||
| NR_134992.2:n.786-154A>C | ||
| NR_134993.2:n.920-154A>C | ||
| NR_134994.2:n.1183A>C |