Linked Data
dbSNP Id:
rs2145066549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274867G>A , CM000681.2:g.2274867G>A | GRCh38 |
| NC_000019.9:g.2274866G>A , CM000681.1:g.2274866G>A | GRCh37 |
| NC_000019.8:g.2225866G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*813C>T MANE Select | ENSP00000345102.3:n.*813C>T | |
| ENST00000342063.4:c.*813C>T | ENSP00000345102.3:n.*813C>T | |
| ENST00000621615.1:c.146+5123G>A | ENSP00000481965.1:n.146+5123G>A | |
| NM_198532.2:c.*813C>T | NP_940934.1:n.*813C>T | |
| NM_198532.3:c.*813C>T MANE Select | NP_940934.1:n.*813C>T |