Linked Data
ClinVar Variation Id:
330054
dbSNP Id:
rs547032329
gnomAD v2:
19-54327654-T-C
gnomAD v3:
19-53824400-T-C
gnomAD v4:
19-53824400-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53824400T>C , CM000681.2:g.53824400T>C | GRCh38 |
| NC_000019.9:g.54327654T>C , CM000681.1:g.54327654T>C | GRCh37 |
| NC_000019.8:g.59019466T>C | NCBI36 |
| NG_008651.1:g.4995A>G | |
| NG_008651.2:g.4995A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.-226A>G | ENSP00000375653.1:n.-226A>G | |
| NM_001277126.1:c.-226A>G | NP_001264055.1:n.-226A>G | |
| NM_001277129.1:c.-226A>G | NP_001264058.1:n.-226A>G | |
| NM_144687.3:c.-226A>G | NP_653288.1:n.-226A>G | |
| XM_011527479.1:c.-226A>G | XP_011525781.1:n.-226A>G | |
| XM_011527480.1:c.-226A>G | XP_011525782.1:n.-226A>G | |
| XM_011527481.1:c.-226A>G | XP_011525783.1:n.-226A>G | |
| XM_011527482.1:c.-226A>G | XP_011525784.1:n.-226A>G | |
| XM_011527483.1:c.-226A>G | XP_011525785.1:n.-226A>G | |
| XM_017027460.1:c.-226A>G | XP_016882949.1:n.-226A>G | |
| XM_017027461.1:c.-226A>G | XP_016882950.1:n.-226A>G | |
| XM_017027462.1:c.-226A>G | XP_016882951.1:n.-226A>G |