gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150846633T>G , CM000669.2:g.150846633T>G | GRCh38 |
| NC_000007.13:g.150543721T>G , CM000669.1:g.150543721T>G | GRCh37 |
| NC_000007.12:g.150174654T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467291.5:c.-92-5482T>G | ENSP00000418328.1:n.-92-5482T>G | |
| ENST00000493429.5:c.-92-5482T>G | ENSP00000418614.1:n.-92-5482T>G | |
| XM_011516008.1:c.-181-5482T>G | XP_011514310.1:n.-181-5482T>G | |
| XM_011516009.1:c.-92-5482T>G | XP_011514311.1:n.-92-5482T>G | |
| XR_928169.1:n.296-5188A>C | ||
| XR_928170.1:n.426-5188A>C | ||
| XR_928171.1:n.298-5188A>C | ||
| XM_017011944.1:c.-92-5482T>G | XP_016867433.1:n.-92-5482T>G | |
| XM_017011945.1:c.-92-5482T>G | XP_016867434.1:n.-92-5482T>G | |
| XR_928169.2:n.302-5188A>C | ||
| XR_928171.2:n.302-5188A>C |