Linked Data
ClinVar Variation Id:
2359996
ClinVar RCV Id:
RCV004198810
dbSNP Id:
rs199988726
ExAC:
1:9017273 C / T
gnomAD v2:
1-9017273-C-T
gnomAD v3:
1-8957214-C-T
gnomAD v4:
1-8957214-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957214C>T , CM000663.2:g.8957214C>T | GRCh38 |
| NC_000001.10:g.9017273C>T , CM000663.1:g.9017273C>T | GRCh37 |
| NC_000001.9:g.8939860C>T | NCBI36 |
| NG_033975.1:g.16381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.337C>T MANE Select | ENSP00000366662.2:p.His113Tyr | |
| ENST00000377436.6:c.337C>T | ENSP00000366654.3:p.His113Tyr | |
| ENST00000377442.3:c.157C>T | ENSP00000366661.2:p.His53Tyr | |
| ENST00000377443.6:c.337C>T | ENSP00000366662.2:p.His113Tyr | |
| ENST00000476083.1:n.99-1696C>T | ||
| ENST00000549778.5:c.241C>T | ENSP00000447108.1:p.His81Tyr | |
| NM_001215.3:c.337C>T | NP_001206.2:p.His113Tyr | |
| NM_001270500.1:c.337C>T | NP_001257429.1:p.His113Tyr | |
| NM_001270501.1:c.157C>T | NP_001257430.1:p.His53Tyr | |
| NM_001270502.1:c.25-1696C>T | NP_001257431.1:n.25-1696C>T | |
| XM_011542083.1:c.349C>T | XP_011540385.1:p.His117Tyr | |
| XM_011542084.1:c.349C>T | XP_011540386.1:p.His117Tyr | |
| XM_011542083.3:c.349C>T | XP_011540385.1:p.His117Tyr | |
| XM_011542084.3:c.349C>T | XP_011540386.1:p.His117Tyr | |
| NM_001215.4:c.337C>T MANE Select | NP_001206.2:p.His113Tyr | |
| NM_001270500.2:c.337C>T | NP_001257429.1:p.His113Tyr | |
| NM_001270501.2:c.157C>T | NP_001257430.1:p.His53Tyr | |
| NM_001270502.2:c.25-1696C>T | NP_001257431.1:n.25-1696C>T |