Linked Data
dbSNP Id:
rs2123423704
gnomAD v3:
21-34370584-G-A
gnomAD v4:
21-34370584-G-A
COSMIC:
COSM4694270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370584G>A , CM000683.2:g.34370584G>A | GRCh38 |
| NC_000021.8:g.35742883G>A , CM000683.1:g.35742883G>A | GRCh37 |
| NC_000021.7:g.34664753G>A | NCBI36 |
| NG_008804.1:g.11561G>A , LRG_291:g.11561G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.106G>A MANE Select | ENSP00000290310.2:p.Ala36Thr | |
| ENST00000290310.3:c.106G>A | ENSP00000290310.2:p.Ala36Thr | |
| NM_172201.1:c.106G>A , LRG_291t1:c.106G>A | NP_751951.1:p.Ala36Thr | |
| XR_937683.1:n.737C>T | ||
| XR_937684.1:n.737C>T | ||
| XR_001755012.2:n.858C>T | ||
| XR_001755013.2:n.737C>T | ||
| XR_937683.2:n.737C>T | ||
| NM_172201.2:c.106G>A MANE Select | NP_751951.1:p.Ala36Thr |