Linked Data
dbSNP Id:
rs138273386
ExAC:
11:27016360 G / T
gnomAD v2:
11-27016360-G-T
gnomAD v4:
11-26994813-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.26994813G>T , CM000673.2:g.26994813G>T | GRCh38 |
| NC_000011.9:g.27016360G>T , CM000673.1:g.27016360G>T | GRCh37 |
| NC_000011.8:g.26972936G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318627.4:c.287G>T MANE Select | ENSP00000321962.2:p.Arg96Leu | |
| ENST00000318627.3:c.287G>T | ENSP00000321962.2:p.Arg96Leu | |
| NM_203371.1:c.287G>T | NP_976249.1:p.Arg96Leu | |
| NM_203371.2:c.287G>T MANE Select | NP_976249.1:p.Arg96Leu |