gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56857565T>G , CM000667.2:g.56857565T>G | GRCh38 |
| NC_000005.9:g.56153392T>G , CM000667.1:g.56153392T>G | GRCh37 |
| NC_000005.8:g.56189149T>G | NCBI36 |
| NG_031884.1:g.47493T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.633+815T>G MANE Select | ENSP00000382423.3:n.633+815T>G | |
| ENST00000399503.3:c.633+815T>G | ENSP00000382423.3:n.633+815T>G | |
| NM_005921.1:c.633+815T>G | NP_005912.1:n.633+815T>G | |
| XM_005248519.3:c.255+815T>G | XP_005248576.2:n.255+815T>G | |
| XM_011543406.1:c.378+815T>G | XP_011541708.1:n.378+815T>G | |
| XM_011543407.1:c.633+815T>G | XP_011541709.1:n.633+815T>G | |
| XM_011543408.1:c.633+815T>G | XP_011541710.1:n.633+815T>G | |
| XM_017009484.1:c.222+815T>G | XP_016864973.1:n.222+815T>G | |
| XM_017009485.1:c.144+815T>G | XP_016864974.1:n.144+815T>G | |
| XR_001742068.2:n.664+815T>G | ||
| NM_005921.2:c.633+815T>G MANE Select | NP_005912.1:n.633+815T>G |