ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31068328G>T , CM000670.2:g.31068328G>T | GRCh38 |
| NC_000008.10:g.30925844G>T , CM000670.1:g.30925844G>T | GRCh37 |
| NC_000008.9:g.31045386G>T | NCBI36 |
| NG_008870.1:g.40067G>T , LRG_524:g.40067G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.724+1G>T MANE Select | ENSP00000298139.5:n.724+1G>T | |
| ENST00000650667.1:c.*338+1G>T | ENSP00000498593.1:n.*338+1G>T | |
| ENST00000651642.1:c.19+1G>T | ENSP00000498779.1:n.19+1G>T | |
| ENST00000298139.5:c.724+1G>T | ENSP00000298139.5:n.724+1G>T | |
| NM_000553.4:c.724+1G>T , LRG_524t1:c.724+1G>T | NP_000544.2:n.724+1G>T | |
| XM_011544639.1:c.724+1G>T | XP_011542941.1:n.724+1G>T | |
| XR_949470.1:n.997+1G>T | ||
| XR_949471.1:n.997+1G>T | ||
| XR_949472.1:n.997+1G>T | ||
| NM_000553.5:c.724+1G>T | NP_000544.2:n.724+1G>T | |
| XM_011544639.3:c.724+1G>T | XP_011542941.1:n.724+1G>T | |
| XM_024447265.1:c.514+1G>T | XP_024303033.1:n.514+1G>T | |
| XR_949470.3:n.1025+1G>T | ||
| XR_949471.3:n.1025+1G>T | ||
| XR_949472.3:n.1025+1G>T | ||
| NM_000553.6:c.724+1G>T MANE Select | NP_000544.2:n.724+1G>T |