Linked Data
dbSNP Id:
rs774658297
ExAC:
19:36223900 A / C
gnomAD v2:
19-36223900-A-C
gnomAD v4:
19-35732999-A-C
COSMIC:
COSM5668794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732999A>C , CM000681.2:g.35732999A>C | GRCh38 |
| NC_000019.9:g.36223900A>C , CM000681.1:g.36223900A>C | GRCh37 |
| NC_000019.8:g.40915740A>C | NCBI36 |
| NG_052906.1:g.19981A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.756A>C | ||
| ENST00000673918.2:c.6384A>C | ENSP00000501283.1:p.Gln2128His | |
| ENST00000674114.2:c.3991A>C | ENSP00000501039.2:n.3991A>C | |
| ENST00000684977.1:c.1668A>C | ENSP00000509384.1:p.Gln556His | |
| ENST00000689544.1:n.1603A>C | ||
| ENST00000691421.1:c.1671A>C | ENSP00000508674.1:p.Gln557His | |
| ENST00000691855.1:c.5992A>C | ||
| ENST00000692961.1:c.6450A>C | ENSP00000509289.1:p.Gln2150His | |
| ENST00000693677.1:c.705-598A>C | ENSP00000509779.1:n.705-598A>C | |
| ENST00000420124.4:c.6450A>C MANE Select | ENSP00000398837.2:p.Gln2150His | |
| ENST00000673918.1:c.6384A>C | ENSP00000501283.1:p.Gln2128His | |
| ENST00000674114.1:c.3772A>C | ||
| ENST00000420124.2:c.6450A>C | ENSP00000398837.1:p.Gln2150His | |
| NM_014727.2:c.6450A>C | NP_055542.1:p.Gln2150His | |
| XM_011527561.1:c.6384A>C | XP_011525863.1:p.Gln2128His | |
| XM_011527562.1:c.6450A>C | XP_011525864.1:p.Gln2150His | |
| XM_011527563.1:c.6174A>C | XP_011525865.1:p.Gln2058His | |
| XM_011527561.2:c.5886A>C | XP_011525863.2:p.Gln1962His | |
| XM_011527562.2:c.6450A>C | XP_011525864.1:p.Gln2150His | |
| XM_017027544.1:c.6450A>C | XP_016883033.1:p.Gln2150His | |
| XM_017027545.1:c.5886A>C | XP_016883034.1:p.Gln1962His | |
| XM_017027546.1:c.3414A>C | XP_016883035.1:p.Gln1138His | |
| NM_014727.3:c.6450A>C MANE Select | NP_055542.1:p.Gln2150His |