Linked Data
ClinVar Variation Id:
12687
dbSNP Id:
rs121918670
ExAC:
1:115576636 C / T
gnomAD v2:
1-115576636-C-T
gnomAD v3:
1-115034015-C-T
gnomAD v4:
1-115034015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115034015C>T , CM000663.2:g.115034015C>T | GRCh38 |
| NC_000001.10:g.115576636C>T , CM000663.1:g.115576636C>T | GRCh37 |
| NC_000001.9:g.115378159C>T | NCBI36 |
| NG_015891.1:g.9222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.205C>T MANE Select | ENSP00000256592.1:p.Gln69Ter | |
| ENST00000256592.2:c.205C>T | ENSP00000256592.1:p.Gln69Ter | |
| ENST00000369517.1:c.205C>T | ENSP00000358530.1:p.Gln69Ter | |
| NM_000549.4:c.205C>T | NP_000540.2:p.Gln69Ter | |
| NM_001277991.1:c.70C>T | NP_001264920.1:p.Gln24Ter | |
| XM_011542065.1:c.205C>T | XP_011540367.1:p.Gln69Ter | |
| XM_011542065.2:c.205C>T | XP_011540367.1:p.Gln69Ter | |
| NM_000549.5:c.205C>T MANE Select | NP_000540.2:p.Gln69Ter |