dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478305G>T , CM000679.2:g.63478305G>T | GRCh38 |
| NC_000017.10:g.61555666G>T , CM000679.1:g.61555666G>T | GRCh37 |
| NC_000017.9:g.58909398G>T | NCBI36 |
| NG_011648.1:g.6233G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.417+207G>T MANE Select | ENSP00000290866.4:n.417+207G>T | |
| ENST00000290866.9:c.417+207G>T | ENSP00000290866.4:n.417+207G>T | |
| ENST00000428043.5:c.417+207G>T | ENSP00000397593.2:n.417+207G>T | |
| ENST00000579462.1:n.649G>T | ||
| ENST00000580318.1:n.606+207G>T | ||
| ENST00000582627.1:c.417+207G>T | ENSP00000462280.1:n.417+207G>T | |
| ENST00000582678.5:c.417+207G>T | ENSP00000462995.1:n.417+207G>T | |
| ENST00000583336.5:n.451+207G>T | ||
| ENST00000584529.5:n.451+207G>T | ||
| NM_000789.3:c.417+207G>T | NP_000780.1:n.417+207G>T | |
| XM_005257110.1:c.-39+207G>T | XP_005257167.1:n.-39+207G>T | |
| NM_000789.4:c.417+207G>T MANE Select | NP_000780.1:n.417+207G>T | |
| NM_001382700.1:c.182+207G>T | NP_001369629.1:n.182+207G>T | |
| NM_001382701.1:c.-198+207G>T | NP_001369630.1:n.-198+207G>T |