Linked Data
ClinVar Variation Id:
315190
ClinVar RCV Id:
RCV000327737
dbSNP Id:
rs2581365
gnomAD v2:
15-100513318-A-C
gnomAD v3:
15-99973113-A-C
gnomAD v4:
15-99973113-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.99973113A>C , CM000677.2:g.99973113A>C | GRCh38 |
| NC_000015.9:g.100513318A>C , CM000677.1:g.100513318A>C | GRCh37 |
| NC_000015.8:g.98330841A>C | NCBI36 |
| NG_016287.1:g.373866T>G | |
| NG_016287.2:g.373866T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268070.9:c.*1289T>G MANE Select | ENSP00000268070.4:n.*1289T>G | |
| ENST00000268070.8:c.*1289T>G | ENSP00000268070.4:n.*1289T>G | |
| ENST00000557896.1:n.1588T>G | ||
| NM_139057.2:c.*1289T>G | NP_620688.2:n.*1289T>G | |
| XM_005254872.2:c.*1289T>G | XP_005254929.1:n.*1289T>G | |
| XM_011521312.1:c.*1289T>G | XP_011519614.1:n.*1289T>G | |
| XR_429624.2:n.1743+380A>C | ||
| NM_139057.3:c.*1289T>G | NP_620688.2:n.*1289T>G | |
| XM_005254872.3:c.*1289T>G | XP_005254929.1:n.*1289T>G | |
| XM_011521312.2:c.*1289T>G | XP_011519614.1:n.*1289T>G | |
| XM_017021973.2:c.*1289T>G | XP_016877462.1:n.*1289T>G | |
| XM_017021975.1:c.*1289T>G | XP_016877464.1:n.*1289T>G | |
| XM_017021976.1:c.*1289T>G | XP_016877465.1:n.*1289T>G | |
| XM_017021978.1:c.*1289T>G | XP_016877467.1:n.*1289T>G | |
| XM_017021979.1:c.*1289T>G | XP_016877468.1:n.*1289T>G | |
| XM_017021980.1:c.*1289T>G | XP_016877469.1:n.*1289T>G | |
| XM_017021982.1:c.*1289T>G | XP_016877471.1:n.*1289T>G | |
| XM_017021983.1:c.*1289T>G | XP_016877472.1:n.*1289T>G | |
| NM_139057.4:c.*1289T>G MANE Select | NP_620688.2:n.*1289T>G |