Linked Data
ClinVar Variation Id:
1718874
ClinVar RCV Id:
RCV002301761
dbSNP Id:
rs1177620943
gnomAD v2:
X-136649118-C-T
gnomAD v3:
X-137566959-C-T
gnomAD v4:
X-137566959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566959C>T , CM000685.2:g.137566959C>T | GRCh38 |
| NC_000023.10:g.136649118C>T , CM000685.1:g.136649118C>T | GRCh37 |
| NC_000023.9:g.136476784C>T | NCBI36 |
| NG_008115.1:g.5773C>T | |
| NG_008115.2:g.5833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.268C>T MANE Select | ENSP00000287538.5:p.His90Tyr | |
| ENST00000287538.9:c.268C>T | ENSP00000287538.5:p.His90Tyr | |
| ENST00000370606.3:c.268C>T | ENSP00000359638.3:p.His90Tyr | |
| NM_003413.3:c.268C>T | NP_003404.1:p.His90Tyr | |
| NM_001330661.1:c.268C>T | NP_001317590.1:p.His90Tyr | |
| NM_003413.4:c.268C>T MANE Select | NP_003404.1:p.His90Tyr |