Linked Data
dbSNP Id:
rs191815616
gnomAD v2:
16-51170000-C-T
gnomAD v3:
16-51136089-C-T
gnomAD v4:
16-51136089-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51136089C>T , CM000678.2:g.51136089C>T | GRCh38 |
| NC_000016.9:g.51170000C>T , CM000678.1:g.51170000C>T | GRCh37 |
| NC_000016.8:g.49727501C>T | NCBI36 |
| NG_007990.1:g.20184G>A , LRG_674:g.20184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.*1023G>A | ENSP00000407914.2:n.*1023G>A | |
| ENST00000685868.1:c.*1023G>A | ENSP00000509873.1:n.*1023G>A | |
| ENST00000251020.9:c.*1023G>A MANE Select | ENSP00000251020.4:n.*1023G>A | |
| ENST00000251020.8:c.*1023G>A | ENSP00000251020.4:n.*1023G>A | |
| ENST00000440970.5:c.*1023G>A | ENSP00000407914.1:n.*1023G>A | |
| NM_001127892.1:c.*1023G>A | NP_001121364.1:n.*1023G>A | |
| NM_002968.2:c.*1023G>A , LRG_674t1:c.*1023G>A | NP_002959.2:n.*1023G>A | |
| XM_006721241.2:c.*1023G>A | XP_006721304.1:n.*1023G>A | |
| XM_011523254.1:c.*1023G>A | XP_011521556.1:n.*1023G>A | |
| XM_011523255.1:c.*1023G>A | XP_011521557.1:n.*1023G>A | |
| NM_002968.3:c.*1023G>A MANE Select | NP_002959.2:n.*1023G>A | |
| NM_001127892.2:c.*1023G>A | NP_001121364.1:n.*1023G>A |