Linked Data
dbSNP Id:
rs1193735812
gnomAD v2:
11-59211203-C-T
gnomAD v4:
11-59443730-C-T
COSMIC:
COSM3953497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59443730C>T , CM000673.2:g.59443730C>T | GRCh38 |
| NC_000011.9:g.59211203C>T , CM000673.1:g.59211203C>T | GRCh37 |
| NC_000011.8:g.58967779C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641045.1:c.562C>T MANE Select | ENSP00000493195.1:p.Leu188= | |
| ENST00000302030.2:c.562C>T | ENSP00000303096.2:p.Leu188= | |
| NM_001004728.1:c.562C>T | NP_001004728.1:p.Leu188= | |
| XM_011544810.1:c.562C>T | XP_011543112.1:p.Leu188= | |
| NM_001004728.2:c.562C>T MANE Select | NP_001004728.1:p.Leu188= |