Linked Data
dbSNP Id:
rs369126704
ExAC:
5:135382199 G / T
gnomAD v2:
5-135382199-G-T
gnomAD v3:
5-136046510-G-T
gnomAD v4:
5-136046510-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046510G>T , CM000667.2:g.136046510G>T | GRCh38 |
| NC_000005.9:g.135382199G>T , CM000667.1:g.135382199G>T | GRCh37 |
| NC_000005.8:g.135410098G>T | NCBI36 |
| NG_012646.1:g.22616G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.459+15G>T MANE Select | ENSP00000416330.2:n.459+15G>T | |
| ENST00000442011.6:c.459+15G>T | ENSP00000416330.2:n.459+15G>T | |
| ENST00000506699.5:n.539G>T | ||
| ENST00000507018.5:c.391G>T | ||
| ENST00000515433.1:n.766G>T | ||
| NM_000358.2:c.459+15G>T | NP_000349.1:n.459+15G>T | |
| NM_000358.3:c.459+15G>T MANE Select | NP_000349.1:n.459+15G>T |