MutSpliceDB:
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56872032G>T , CM000667.2:g.56872032G>T | GRCh38 |
| NC_000005.9:g.56167859G>T , CM000667.1:g.56167859G>T | GRCh37 |
| NC_000005.8:g.56203616G>T | NCBI36 |
| NG_031884.1:g.61960G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1423+1G>T MANE Select | ENSP00000382423.3:n.1423+1G>T | |
| ENST00000399503.3:c.1423+1G>T | ENSP00000382423.3:n.1423+1G>T | |
| NM_005921.1:c.1423+1G>T | NP_005912.1:n.1423+1G>T | |
| XM_005248519.3:c.1045+1G>T | XP_005248576.2:n.1045+1G>T | |
| XM_011543406.1:c.1168+1G>T | XP_011541708.1:n.1168+1G>T | |
| XM_011543407.1:c.1423+1G>T | XP_011541709.1:n.1423+1G>T | |
| XM_011543408.1:c.1423+1G>T | XP_011541710.1:n.1423+1G>T | |
| XM_017009484.1:c.1012+1G>T | XP_016864973.1:n.1012+1G>T | |
| XM_017009485.1:c.934+1G>T | XP_016864974.1:n.934+1G>T | |
| XR_001742068.2:n.1454+1G>T | ||
| NM_005921.2:c.1423+1G>T MANE Select | NP_005912.1:n.1423+1G>T |