Linked Data
gnomAD v4:
7-21619266-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619266G>T , CM000669.2:g.21619266G>T | GRCh38 |
| NC_000007.13:g.21658884G>T , CM000669.1:g.21658884G>T | GRCh37 |
| NC_000007.12:g.21625409G>T | NCBI36 |
| NG_012886.2:g.81052G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4377+44G>T MANE Select | ENSP00000475939.1:n.4377+44G>T | |
| ENST00000328843.10:c.4392+44G>T | ENSP00000330671.7:n.4392+44G>T | |
| ENST00000409508.7:c.4377+44G>T | ENSP00000475939.1:n.4377+44G>T | |
| ENST00000465593.1:n.403+44G>T | ||
| ENST00000620169.4:c.4392+44G>T | ENSP00000481693.1:n.4392+44G>T | |
| NM_001277115.1:c.4377+44G>T | NP_001264044.1:n.4377+44G>T | |
| NM_001277115.2:c.4377+44G>T MANE Select | NP_001264044.1:n.4377+44G>T |