Linked Data
dbSNP Id:
rs764299422
ExAC:
10:8100624 C / T
gnomAD v2:
10-8100624-C-T
gnomAD v4:
10-8058661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058661C>T , CM000672.2:g.8058661C>T | GRCh38 |
| NC_000010.10:g.8100624C>T , CM000672.1:g.8100624C>T | GRCh37 |
| NC_000010.9:g.8140630C>T | NCBI36 |
| NG_015859.1:g.8958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.598C>T | ENSP00000341619.3:p.His200Tyr | |
| ENST00000379328.9:c.598C>T MANE Select | ENSP00000368632.3:p.His200Tyr | |
| ENST00000346208.3:c.598C>T | ENSP00000341619.3:p.His200Tyr | |
| ENST00000379328.7:c.598C>T | ENSP00000368632.3:p.His200Tyr | |
| ENST00000461472.1:n.263C>T | ||
| NM_001002295.1:c.598C>T | NP_001002295.1:p.His200Tyr | |
| NM_002051.2:c.598C>T | NP_002042.1:p.His200Tyr | |
| XM_005252442.2:c.598C>T | XP_005252499.1:p.His200Tyr | |
| XM_005252443.3:c.598C>T | XP_005252500.1:p.His200Tyr | |
| XM_005252443.5:c.598C>T | XP_005252500.1:p.His200Tyr | |
| NM_001002295.2:c.598C>T MANE Select | NP_001002295.1:p.His200Tyr | |
| NM_002051.3:c.598C>T | NP_002042.1:p.His200Tyr |