Linked Data
dbSNP Id:
rs11671983
gnomAD v2:
19-10209192-G-C
gnomAD v3:
19-10098516-G-C
gnomAD v4:
19-10098516-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10098516G>C , CM000681.2:g.10098516G>C | GRCh38 |
| NC_000019.9:g.10209192G>C , CM000681.1:g.10209192G>C | GRCh37 |
| NC_000019.8:g.10070192G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253109.5:c.-10-1943C>G MANE Select | ENSP00000253109.3:n.-10-1943C>G | |
| ENST00000253109.4:c.-10-1943C>G | ENSP00000253109.3:n.-10-1943C>G | |
| ENST00000592641.5:c.-10-1943C>G | ENSP00000467930.1:n.-10-1943C>G | |
| NM_031917.2:c.-10-1943C>G | NP_114123.2:n.-10-1943C>G | |
| XM_005260091.2:c.234-1943C>G | XP_005260148.1:n.234-1943C>G | |
| XM_011528347.1:c.-10-1943C>G | XP_011526649.1:n.-10-1943C>G | |
| XM_011528348.1:c.192-1943C>G | XP_011526650.1:n.192-1943C>G | |
| XM_011528349.1:c.192-1943C>G | XP_011526651.1:n.192-1943C>G | |
| XM_011528350.1:c.-10-1943C>G | XP_011526652.1:n.-10-1943C>G | |
| NM_001321411.1:c.-10-1943C>G | NP_001308340.1:n.-10-1943C>G | |
| XM_005260091.4:c.234-1943C>G | XP_005260148.1:n.234-1943C>G | |
| XM_011528347.3:c.-10-1943C>G | XP_011526649.1:n.-10-1943C>G | |
| XM_011528348.3:c.192-1943C>G | XP_011526650.1:n.192-1943C>G | |
| XM_011528349.3:c.192-1943C>G | XP_011526651.1:n.192-1943C>G | |
| XM_011528350.3:c.-10-1943C>G | XP_011526652.1:n.-10-1943C>G | |
| XM_017027347.2:c.-10-1943C>G | XP_016882836.1:n.-10-1943C>G | |
| XR_002958369.1:n.425-1943C>G | ||
| NM_001321411.2:c.-10-1943C>G | NP_001308340.1:n.-10-1943C>G | |
| NM_001387347.1:c.-10-1943C>G | NP_001374276.1:n.-10-1943C>G | |
| NM_001387348.1:c.-10-1943C>G | NP_001374277.1:n.-10-1943C>G | |
| NM_031917.3:c.-10-1943C>G MANE Select | NP_114123.2:n.-10-1943C>G |