Linked Data
dbSNP Id:
rs758966457
gnomAD v4:
7-155811810-G-T
MyVariant Identifiers:
chr7:g.155811810G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811810G>T , CM000669.2:g.155811810G>T | GRCh38 |
| NC_000007.13:g.155604504G>T , CM000669.1:g.155604504G>T | GRCh37 |
| NC_000007.12:g.155297265G>T | NCBI36 |
| NG_007504.2:g.5464C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.300+13C>A MANE Select | ENSP00000297261.2:n.300+13C>A | |
| ENST00000297261.6:c.300+13C>A | ENSP00000297261.2:n.300+13C>A | |
| NM_000193.2:c.300+13C>A | NP_000184.1:n.300+13C>A | |
| NM_000193.3:c.300+13C>A | NP_000184.1:n.300+13C>A | |
| XM_011516479.2:c.-2908C>A | XP_011514781.1:n.-2908C>A | |
| XM_011516480.2:c.-3206C>A | XP_011514782.1:n.-3206C>A | |
| NM_000193.4:c.300+13C>A MANE Select | NP_000184.1:n.300+13C>A |