Linked Data
dbSNP Id:
rs760532651
ExAC:
11:88911409 G / T
gnomAD v2:
11-88911409-G-T
gnomAD v4:
11-89178241-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178241G>T , CM000673.2:g.89178241G>T | GRCh38 |
| NC_000011.9:g.88911409G>T , CM000673.1:g.88911409G>T | GRCh37 |
| NC_000011.8:g.88551057G>T | NCBI36 |
| NG_008748.1:g.5370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.288G>T MANE Select | ENSP00000263321.4:p.Met96Ile | |
| ENST00000263321.5:c.288G>T | ENSP00000263321.4:p.Met96Ile | |
| ENST00000526139.1:n.349G>T | ||
| NM_000372.4:c.288G>T | NP_000363.1:p.Met96Ile | |
| XM_011542970.1:c.288G>T | XP_011541272.1:p.Met96Ile | |
| XM_011542970.2:c.288G>T | XP_011541272.1:p.Met96Ile | |
| XR_001748321.1:n.2718-64708C>A | ||
| XR_001748322.1:n.2733-64708C>A | ||
| NM_000372.5:c.288G>T MANE Select | NP_000363.1:p.Met96Ile |