gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61718507G>T , CM000682.2:g.61718507G>T | GRCh38 |
| NC_000020.10:g.60293563G>T , CM000682.1:g.60293563G>T | GRCh37 |
| NC_000020.9:g.59726958G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.170-25056G>T MANE Select | ENSP00000484928.1:n.170-25056G>T | |
| ENST00000543233.2:c.-53-25056G>T | ENSP00000443301.1:n.-53-25056G>T | |
| ENST00000611855.4:c.50-25056G>T | ENSP00000480844.1:n.50-25056G>T | |
| ENST00000614565.4:c.170-25056G>T | ENSP00000484928.1:n.170-25056G>T | |
| NM_001252338.2:c.59-25056G>T | NP_001239267.1:n.59-25056G>T | |
| NM_001252339.2:c.-53-25056G>T | NP_001239268.1:n.-53-25056G>T | |
| NM_001794.4:c.170-25056G>T | NP_001785.2:n.170-25056G>T | |
| NR_147702.1:n.999C>A | ||
| NM_001794.5:c.170-25056G>T MANE Select | NP_001785.2:n.170-25056G>T | |
| NM_001252339.3:c.-53-25056G>T | NP_001239268.1:n.-53-25056G>T |