Linked Data
ClinVar Variation Id:
412380
dbSNP Id:
rs754805626
ExAC:
5:236554 C / G
gnomAD v2:
5-236554-C-G
gnomAD v3:
5-236439-C-G
gnomAD v4:
5-236439-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236439C>G , CM000667.2:g.236439C>G | GRCh38 |
| NC_000005.9:g.236554C>G , CM000667.1:g.236554C>G | GRCh37 |
| NC_000005.8:g.289554C>G | NCBI36 |
| NG_012339.1:g.23199C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1272C>G MANE Select | ENSP00000264932.6:p.His424Gln | |
| ENST00000651543.1:c.*5C>G | ENSP00000499215.1:n.*5C>G | |
| ENST00000264932.10:c.1272C>G | ENSP00000264932.6:p.His424Gln | |
| ENST00000504309.5:c.1272C>G | ENSP00000426514.1:p.His424Gln | |
| ENST00000505555.5:n.1312C>G | ||
| ENST00000510361.5:c.1128C>G | ENSP00000427703.1:p.His376Gln | |
| ENST00000511810.5:n.2019C>G | ||
| ENST00000512962.5:n.858C>G | ||
| ENST00000514027.5:n.1227C>G | ||
| ENST00000515752.5:n.858C>G | ||
| ENST00000617470.4:c.837C>G | ENSP00000484230.1:p.His279Gln | |
| NM_001294332.1:c.1128C>G | NP_001281261.1:p.His376Gln | |
| NM_004168.3:c.1272C>G | NP_004159.2:p.His424Gln | |
| XM_005248331.2:c.1272C>G | XP_005248388.1:p.His424Gln | |
| XM_011514072.1:c.1272C>G | XP_011512374.1:p.His424Gln | |
| XM_011514073.1:c.1272C>G | XP_011512375.1:p.His424Gln | |
| XR_925638.1:n.1405C>G | ||
| NM_001330758.1:c.1272C>G | NP_001317687.1:p.His424Gln | |
| XM_011514072.2:c.1272C>G | XP_011512374.1:p.His424Gln | |
| XM_011514073.2:c.1272C>G | XP_011512375.1:p.His424Gln | |
| XM_017009685.2:c.1272C>G | XP_016865174.1:p.His424Gln | |
| XM_024446143.1:c.1128C>G | XP_024301911.1:p.His376Gln | |
| XR_002956167.1:n.1319C>G | ||
| NM_004168.4:c.1272C>G MANE Select | NP_004159.2:p.His424Gln | |
| NM_001294332.2:c.1128C>G | NP_001281261.1:p.His376Gln | |
| NM_001330758.2:c.1272C>G | NP_001317687.1:p.His424Gln |