Linked Data
dbSNP Id:
rs773064579
ExAC:
4:123859284 C / A
gnomAD v2:
4-123859284-C-A
gnomAD v4:
4-122938129-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122938129C>A , CM000666.2:g.122938129C>A | GRCh38 |
| NC_000004.11:g.123859284C>A , CM000666.1:g.123859284C>A | GRCh37 |
| NC_000004.10:g.124078734C>A | NCBI36 |
| NG_051570.1:g.20060C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274008.5:c.1338C>A MANE Select | ENSP00000274008.3:p.His446Gln | |
| ENST00000674886.1:n.1400C>A | ||
| ENST00000675612.1:c.1335C>A | ENSP00000502453.1:p.His445Gln | |
| ENST00000274008.4:c.1338C>A | ENSP00000274008.3:p.His446Gln | |
| ENST00000422835.2:n.1380C>A | ||
| NM_145207.2:c.1338C>A | NP_660208.2:p.His446Gln | |
| XM_005262783.3:c.1335C>A | XP_005262840.1:p.His445Gln | |
| XM_011531678.1:c.1335C>A | XP_011529980.1:p.His445Gln | |
| XM_011531679.1:c.1338C>A | XP_011529981.1:p.His446Gln | |
| NM_001317799.1:c.1335C>A | NP_001304728.1:p.His445Gln | |
| NM_001345856.1:c.1335C>A | NP_001332785.1:p.His445Gln | |
| XM_011531678.2:c.1335C>A | XP_011529980.1:p.His445Gln | |
| XM_011531679.3:c.1338C>A | XP_011529981.1:p.His446Gln | |
| XM_017007825.1:c.1338C>A | XP_016863314.1:p.His446Gln | |
| XM_017007826.1:c.1338C>A | XP_016863315.1:p.His446Gln | |
| XM_017007827.2:c.1338C>A | XP_016863316.1:p.His446Gln | |
| XM_017007828.1:c.1116C>A | XP_016863317.1:p.His372Gln | |
| XM_017007829.1:c.882C>A | XP_016863318.1:p.His294Gln | |
| XM_017007830.1:c.1338C>A | XP_016863319.1:p.His446Gln | |
| XR_001741151.1:n.1408C>A | ||
| NM_145207.3:c.1338C>A MANE Select | NP_660208.2:p.His446Gln | |
| NM_001317799.2:c.1335C>A | NP_001304728.1:p.His445Gln | |
| NM_001345856.2:c.1335C>A | NP_001332785.1:p.His445Gln |