Linked Data
ClinVar Variation Id:
317233
dbSNP Id:
rs62640017
ExAC:
15:89753663 G / A
gnomAD v2:
15-89753663-G-A
gnomAD v3:
15-89210432-G-A
gnomAD v4:
15-89210432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210432G>A , CM000677.2:g.89210432G>A | GRCh38 |
| NC_000015.9:g.89753663G>A , CM000677.1:g.89753663G>A | GRCh37 |
| NC_000015.8:g.87554667G>A | NCBI36 |
| NG_008116.1:g.16260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.807C>T MANE Select | ENSP00000268125.5:p.His269= | |
| ENST00000268125.9:c.807C>T | ENSP00000268125.5:p.His269= | |
| ENST00000563254.1:c.179C>T | ||
| NM_000326.4:c.807C>T | NP_000317.1:p.His269= | |
| XM_011521870.1:c.807C>T | XP_011520172.1:p.His269= | |
| XM_011521871.1:c.732C>T | XP_011520173.1:p.His244= | |
| XM_011521872.1:c.732C>T | XP_011520174.1:p.His244= | |
| XM_011521870.2:c.807C>T | XP_011520172.1:p.His269= | |
| XM_017022460.1:c.834C>T | XP_016877949.1:p.His278= | |
| NM_000326.5:c.807C>T MANE Select | NP_000317.1:p.His269= |