Linked Data
dbSNP Id:
rs889809925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788025G>A , CM000664.2:g.135788025G>A | GRCh38 |
| NC_000002.11:g.136545595G>A , CM000664.1:g.136545595G>A | GRCh37 |
| NC_000002.10:g.136262065G>A | NCBI36 |
| NG_008104.2:g.72145C>T , LRG_338:g.72145C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*299C>T MANE Select | ENSP00000264162.2:n.*299C>T | |
| ENST00000264162.6:c.*299C>T | ENSP00000264162.2:n.*299C>T | |
| NM_002299.2:c.*299C>T , LRG_338t1:c.*299C>T | NP_002290.2:n.*299C>T | |
| NM_002299.3:c.*299C>T | NP_002290.2:n.*299C>T | |
| NM_002299.4:c.*299C>T MANE Select | NP_002290.2:n.*299C>T |