Linked Data
dbSNP Id:
rs2131304916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114796431A>T , CM000671.2:g.114796431A>T | GRCh38 |
| NC_000009.11:g.117558711A>T , CM000671.1:g.117558711A>T | GRCh37 |
| NC_000009.10:g.116598532A>T | NCBI36 |
| NG_011488.2:g.14698T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374045.5:c.211-2863T>A MANE Select | ENSP00000363157.3:n.211-2863T>A | |
| ENST00000374045.4:c.211-2863T>A | ENSP00000363157.3:n.211-2863T>A | |
| NM_005118.3:c.211-2863T>A | NP_005109.2:n.211-2863T>A | |
| NM_005118.4:c.211-2863T>A MANE Select | NP_005109.2:n.211-2863T>A |