Linked Data
dbSNP Id:
rs2049530599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659761T>A , CM000683.2:g.31659761T>A | GRCh38 |
| NC_000021.8:g.33032074T>A , CM000683.1:g.33032074T>A | GRCh37 |
| NC_000021.7:g.31953945T>A | NCBI36 |
| NG_008689.1:g.5140T>A , LRG_652:g.5140T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.-9T>A MANE Select | ENSP00000270142.7:n.-9T>A | |
| ENST00000270142.10:c.-9T>A | ENSP00000270142.6:n.-9T>A | |
| ENST00000389995.4:c.-9T>A | ENSP00000374645.4:n.-9T>A | |
| ENST00000470944.1:n.53T>A | ||
| ENST00000476106.5:n.69T>A | ||
| NM_000454.4:c.-9T>A , LRG_652t1:c.-9T>A | NP_000445.1:n.-9T>A | |
| NM_000454.5:c.-9T>A MANE Select | NP_000445.1:n.-9T>A |