Linked Data
ClinVar Variation Id:
317230
ClinVar RCV Id:
RCV001690058
dbSNP Id:
rs834
gnomAD v2:
15-89753349-A-C
gnomAD v3:
15-89210118-A-C
gnomAD v4:
15-89210118-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89210118A>C , CM000677.2:g.89210118A>C | GRCh38 |
| NC_000015.9:g.89753349A>C , CM000677.1:g.89753349A>C | GRCh37 |
| NC_000015.8:g.87554353A>C | NCBI36 |
| NG_008116.1:g.16574T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268125.10:c.*167T>G MANE Select | ENSP00000268125.5:n.*167T>G | |
| ENST00000268125.9:c.*167T>G | ENSP00000268125.5:n.*167T>G | |
| ENST00000563254.1:c.493T>G | ||
| NM_000326.4:c.*167T>G | NP_000317.1:n.*167T>G | |
| XM_011521870.1:c.*167T>G | XP_011520172.1:n.*167T>G | |
| XM_011521871.1:c.*167T>G | XP_011520173.1:n.*167T>G | |
| XM_011521872.1:c.*167T>G | XP_011520174.1:n.*167T>G | |
| XM_011521870.2:c.*167T>G | XP_011520172.1:n.*167T>G | |
| XM_017022460.1:c.*167T>G | XP_016877949.1:n.*167T>G | |
| NM_000326.5:c.*167T>G MANE Select | NP_000317.1:n.*167T>G |