Linked Data
dbSNP Id:
rs2144622176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63832086G>A , CM000679.2:g.63832086G>A | GRCh38 |
| NC_000017.10:g.61909446G>A , CM000679.1:g.61909446G>A | GRCh37 |
| NC_000017.9:g.59263178G>A | NCBI36 |
| NG_053004.1:g.15906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448276.7:c.*852C>T MANE Select | ENSP00000392617.2:n.*852C>T | |
| ENST00000448276.6:c.*852C>T | ENSP00000392617.2:n.*852C>T | |
| ENST00000613943.4:c.2337C>T | ENSP00000483605.1:n.2337C>T | |
| NM_001098426.1:c.*852C>T | NP_001091896.1:n.*852C>T | |
| XM_005257604.2:c.*852C>T | XP_005257661.2:n.*852C>T | |
| NM_001330439.1:c.*852C>T | NP_001317368.1:n.*852C>T | |
| NM_001330440.1:c.*852C>T | NP_001317369.1:n.*852C>T | |
| NM_001098426.2:c.*852C>T MANE Select | NP_001091896.1:n.*852C>T | |
| NM_001330440.2:c.*852C>T | NP_001317369.1:n.*852C>T |