Linked Data
ClinVar Variation Id:
314510
dbSNP Id:
rs45579739
gnomAD v2:
14-77741568-T-C
gnomAD v3:
14-77275225-T-C
gnomAD v4:
14-77275225-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77275225T>C , CM000676.2:g.77275225T>C | GRCh38 |
| NC_000014.8:g.77741568T>C , CM000676.1:g.77741568T>C | GRCh37 |
| NC_000014.7:g.76811321T>C | NCBI36 |
| NG_008897.1:g.50658A>G , LRG_844:g.50658A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.*2151A>G | ENSP00000451967.2:n.*2151A>G | |
| ENST00000682467.1:c.*2151A>G | ENSP00000508062.1:n.*2151A>G | |
| ENST00000682897.1:c.1898A>G | ||
| ENST00000682955.1:n.3978A>G | ||
| ENST00000683380.1:n.4068A>G | ||
| ENST00000683784.1:c.1894A>G | ||
| ENST00000261534.9:c.*2151A>G MANE Select | ENSP00000261534.4:n.*2151A>G | |
| ENST00000261534.8:c.*2151A>G | ENSP00000261534.4:n.*2151A>G | |
| ENST00000452340.7:n.5380A>G | ||
| ENST00000554767.5:n.5190A>G | ||
| NM_013382.5:c.*2151A>G , LRG_844t1:c.*2151A>G | NP_037514.2:n.*2151A>G | |
| XM_011536675.1:c.*2151A>G | XP_011534977.1:n.*2151A>G | |
| XM_011536676.1:c.*2151A>G | XP_011534978.1:n.*2151A>G | |
| XM_011536677.1:c.*2151A>G | XP_011534979.1:n.*2151A>G | |
| XM_011536679.1:c.*2151A>G | XP_011534981.1:n.*2151A>G | |
| XM_011536675.2:c.*2151A>G | XP_011534977.1:n.*2151A>G | |
| XM_011536676.2:c.*2151A>G | XP_011534978.1:n.*2151A>G | |
| XM_011536677.3:c.*2151A>G | XP_011534979.1:n.*2151A>G | |
| XR_001750279.1:n.4690A>G | ||
| XR_001750282.1:n.5343A>G | ||
| XR_943416.3:n.4655A>G | ||
| NM_013382.6:c.*2151A>G | NP_037514.2:n.*2151A>G | |
| NM_013382.7:c.*2151A>G MANE Select | NP_037514.2:n.*2151A>G |