Linked Data
ClinVar Variation Id:
246182
ClinVar RCV Id:
RCV002418043
dbSNP Id:
rs879254144
gnomAD v2:
16-23652478-T-C
gnomAD v4:
16-23641157-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641157T>C , CM000678.2:g.23641157T>C | GRCh38 |
| NC_000016.9:g.23652478T>C , CM000678.1:g.23652478T>C | GRCh37 |
| NC_000016.8:g.23559979T>C | NCBI36 |
| NG_007406.1:g.5201A>G , LRG_308:g.5201A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.-852A>G | ENSP00000460666.3:n.-852A>G | |
| ENST00000565038.2:c.1A>G | ENSP00000459882.2:p.Met1Val | |
| ENST00000566069.6:c.1A>G | ENSP00000459237.2:p.Met1Val | |
| ENST00000697377.2:c.-239A>G | ENSP00000513286.2:n.-239A>G | |
| ENST00000697379.2:c.-145A>G | ENSP00000513287.2:n.-145A>G | |
| ENST00000561514.2:c.-1743A>G | ENSP00000460666.2:n.-1743A>G | |
| ENST00000697374.1:c.-1334A>G | ENSP00000513284.1:n.-1334A>G | |
| ENST00000697376.1:c.-1055A>G | ENSP00000513285.1:n.-1055A>G | |
| ENST00000697377.1:c.-1130A>G | ENSP00000513286.1:n.-1130A>G | |
| ENST00000697379.1:c.-1036A>G | ENSP00000513287.1:n.-1036A>G | |
| ENST00000697382.1:c.-1794A>G | ENSP00000513288.1:n.-1794A>G | |
| ENST00000697383.1:c.1A>G | ENSP00000513289.1:p.Met1Val | |
| ENST00000697384.1:n.155A>G | ||
| ENST00000261584.9:c.1A>G MANE Select | ENSP00000261584.4:p.Met1Val | |
| ENST00000261584.8:c.1A>G | ENSP00000261584.4:p.Met1Val | |
| ENST00000567003.1:n.145A>G | ||
| ENST00000568219.5:c.-868A>G | ENSP00000454703.2:n.-868A>G | |
| NM_024675.3:c.1A>G , LRG_308t1:c.1A>G | NP_078951.2:p.Met1Val | |
| XM_011545948.1:c.-1019A>G | XP_011544250.1:n.-1019A>G | |
| XM_011545946.2:c.-852A>G | XP_011544248.1:n.-852A>G | |
| XM_011545947.2:c.-852A>G | XP_011544249.1:n.-852A>G | |
| XM_011545948.2:c.-1019A>G | XP_011544250.1:n.-1019A>G | |
| XM_017023671.1:c.-852A>G | XP_016879160.1:n.-852A>G | |
| XM_017023672.2:c.1A>G | XP_016879161.1:p.Met1Val | |
| XM_017023673.2:c.1A>G | XP_016879162.1:p.Met1Val | |
| NM_024675.4:c.1A>G MANE Select | NP_078951.2:p.Met1Val |