Linked Data
dbSNP Id:
rs1174214693
gnomAD v2:
11-2465927-G-T
gnomAD v3:
11-2444697-G-T
gnomAD v4:
11-2444697-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444697G>T , CM000673.2:g.2444697G>T | GRCh38 |
| NC_000011.9:g.2465927G>T , CM000673.1:g.2465927G>T | GRCh37 |
| NC_000011.8:g.2422503G>T | NCBI36 |
| NG_008935.1:g.4707G>T , LRG_287:g.4707G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.12G>T | ENSP00000434560.2:p.Ala4= | |
| ENST00000496887.6:c.12G>T | ENSP00000434560.1:p.Ala4= |