Linked Data
dbSNP Id:
rs757266860
ExAC:
19:10904453 G / C
gnomAD v2:
19-10904453-G-C
gnomAD v4:
19-10793777-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10793777G>C , CM000681.2:g.10793777G>C | GRCh38 |
| NC_000019.9:g.10904453G>C , CM000681.1:g.10904453G>C | GRCh37 |
| NC_000019.8:g.10765453G>C | NCBI36 |
| NG_008792.1:g.80699G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.1238G>C | ||
| ENST00000682524.1:n.1238G>C | ||
| ENST00000683738.1:n.1238G>C | ||
| ENST00000355667.11:c.1050G>C | ENSP00000347890.6:p.Gln350His | |
| ENST00000389253.9:c.1050G>C MANE Select | ENSP00000373905.4:p.Gln350His | |
| ENST00000355667.10:c.1050G>C | ENSP00000347890.6:p.Gln350His | |
| ENST00000359692.10:c.1050G>C | ENSP00000352721.6:p.Gln350His | |
| ENST00000389253.8:c.1050G>C | ENSP00000373905.3:p.Gln350His | |
| ENST00000408974.8:c.1050G>C | ENSP00000386192.3:p.Gln350His | |
| ENST00000585892.5:c.1050G>C | ENSP00000468734.1:p.Gln350His | |
| ENST00000587830.2:c.306G>C | ENSP00000466603.2:p.Gln102His | |
| ENST00000591701.5:n.410G>C | ||
| NM_001005360.2:c.1050G>C | NP_001005360.1:p.Gln350His | |
| NM_001005361.2:c.1050G>C | NP_001005361.1:p.Gln350His | |
| NM_001005362.2:c.1050G>C | NP_001005362.1:p.Gln350His | |
| NM_001190716.1:c.1050G>C | NP_001177645.1:p.Gln350His | |
| NM_004945.3:c.1050G>C | NP_004936.2:p.Gln350His | |
| NM_001005361.3:c.1050G>C MANE Select | NP_001005361.1:p.Gln350His | |
| NM_001190716.2:c.1050G>C | NP_001177645.1:p.Gln350His | |
| NM_001005360.3:c.1050G>C | NP_001005360.1:p.Gln350His | |
| NM_001005362.3:c.1050G>C | NP_001005362.1:p.Gln350His | |
| NM_004945.4:c.1050G>C | NP_004936.2:p.Gln350His |