Linked Data
dbSNP Id:
rs1381359648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111222926T>C , CM000668.2:g.111222926T>C | GRCh38 |
| NC_000006.11:g.111544129T>C , CM000668.1:g.111544129T>C | GRCh37 |
| NC_000006.10:g.111650822T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368851.10:c.*691T>C MANE Select | ENSP00000357844.4:n.*691T>C | |
| ENST00000368850.4:c.*691T>C | ENSP00000357843.1:n.*691T>C | |
| ENST00000368851.9:c.*691T>C | ENSP00000357844.4:n.*691T>C | |
| NM_018593.4:c.*691T>C | NP_061063.2:n.*691T>C | |
| XM_005266818.2:c.*645T>C | XP_005266875.1:n.*645T>C | |
| XM_017010237.1:c.*691T>C | XP_016865726.1:n.*691T>C | |
| XR_001743158.1:n.2521T>C | ||
| NM_018593.5:c.*691T>C MANE Select | NP_061063.2:n.*691T>C |