Linked Data
dbSNP Id:
rs772388107
ExAC:
17:4637934 A / G
gnomAD v2:
17-4637934-A-G
gnomAD v4:
17-4734639-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734639A>G , CM000679.2:g.4734639A>G | GRCh38 |
| NC_000017.10:g.4637934A>G , CM000679.1:g.4637934A>G | GRCh37 |
| NC_000017.9:g.4584683A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.732T>C MANE Select | ENSP00000293778.7:p.His244= | |
| ENST00000574412.6:c.732T>C | ENSP00000459592.2:p.His244= | |
| ENST00000293778.10:c.789T>C | ENSP00000293778.6:p.His263= | |
| ENST00000574412.5:c.789T>C | ENSP00000459592.1:p.His263= | |
| ENST00000575168.1:n.563T>C | ||
| ENST00000576153.5:n.523T>C | ||
| NM_001100812.1:c.789T>C | NP_001094282.1:p.His263= | |
| NM_022059.3:c.789T>C | NP_071342.2:p.His263= | |
| NM_022059.4:c.789T>C | NP_071342.2:p.His263= | |
| NM_001100812.2:c.732T>C | NP_001094282.2:p.His244= | |
| NM_001386809.1:c.732T>C MANE Select | NP_001373738.1:p.His244= |