Linked Data
ClinVar Variation Id:
1717480
ClinVar RCV Id:
RCV002296388
gnomAD v4:
2-222571948-G-A
COSMIC:
COSM3798676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222571948G>A , CM000664.2:g.222571948G>A | GRCh38 |
| NC_000002.11:g.223436667G>A , CM000664.1:g.223436667G>A | GRCh37 |
| NC_000002.10:g.223144911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281828.8:c.1693C>T MANE Select | ENSP00000281828.6:p.His565Tyr | |
| ENST00000281828.6:c.1693C>T | ENSP00000281828.6:p.His565Tyr | |
| NM_005687.4:c.1693C>T | NP_005678.3:p.His565Tyr | |
| NR_130154.1:n.2171C>T | ||
| XM_006712169.1:c.1396C>T | XP_006712232.1:p.His466Tyr | |
| XM_006712170.1:c.1396C>T | XP_006712233.1:p.His466Tyr | |
| XM_011510466.1:c.1396C>T | XP_011508768.1:p.His466Tyr | |
| XM_006712169.2:c.1396C>T | XP_006712232.1:p.His466Tyr | |
| XM_011510466.2:c.1396C>T | XP_011508768.1:p.His466Tyr | |
| XM_017003110.2:c.1396C>T | XP_016858599.1:p.His466Tyr | |
| XM_024452492.1:c.1396C>T | XP_024308260.1:p.His466Tyr | |
| NM_005687.5:c.1693C>T MANE Select | NP_005678.3:p.His565Tyr | |
| NR_130154.2:n.1908C>T |