ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723971C>G , CM000671.2:g.91723971C>G | GRCh38 |
| NC_000009.11:g.94486253C>G , CM000671.1:g.94486253C>G | GRCh37 |
| NC_000009.10:g.93526074C>G | NCBI36 |
| NG_008089.1:g.231192G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2523G>C MANE Select | ENSP00000364860.3:p.Gln841His | |
| ENST00000375708.3:c.2523G>C | ENSP00000364860.3:p.Gln841His | |
| ENST00000375715.5:c.1920+183G>C | ENSP00000364867.1:n.1920+183G>C | |
| ENST00000550066.5:n.2991G>C | ||
| NM_004560.3:c.2523G>C | NP_004551.2:p.Gln841His | |
| XM_005252008.3:c.2103G>C | XP_005252065.1:p.Gln701His | |
| XM_005252009.3:c.1320G>C | XP_005252066.1:p.Gln440His | |
| XM_006717121.2:c.2103G>C | XP_006717184.1:p.Gln701His | |
| XM_011518721.1:c.2103G>C | XP_011517023.1:p.Gln701His | |
| XM_005252008.4:c.2103G>C | XP_005252065.1:p.Gln701His | |
| XM_006717121.3:c.2103G>C | XP_006717184.1:p.Gln701His | |
| XM_017014762.1:c.2514G>C | XP_016870251.1:p.Gln838His | |
| XM_017014763.1:c.2103G>C | XP_016870252.1:p.Gln701His | |
| NM_004560.4:c.2523G>C MANE Select | NP_004551.2:p.Gln841His |