Linked Data
dbSNP Id:
rs1907688235
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256434T>C , CM000679.2:g.34256434T>C | GRCh38 |
| NC_000017.10:g.32583453T>C , CM000679.1:g.32583453T>C | GRCh37 |
| NC_000017.9:g.29607566T>C | NCBI36 |
| NG_012123.1:g.6158T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.*91T>C | ENSP00000462156.1:n.*91T>C | |
| ENST00000624362.2:n.1150T>C | ||
| ENST00000225831.4:c.194+95T>C MANE Select | ENSP00000225831.4:n.194+95T>C | |
| ENST00000580907.5:c.*91T>C | ENSP00000462156.1:n.*91T>C | |
| ENST00000582017.1:n.227T>C | ||
| NM_002982.3:c.194+95T>C | NP_002973.1:n.194+95T>C | |
| NM_002982.4:c.194+95T>C MANE Select | NP_002973.1:n.194+95T>C |