Linked Data
dbSNP Id:
rs916512320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622780T>C , CM000668.2:g.31622780T>C | GRCh38 |
| NC_000006.11:g.31590557T>C , CM000668.1:g.31590557T>C | GRCh37 |
| NC_000006.10:g.31698536T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706625.1:c.7T>C | ENSP00000516471.1:p.Phe3Leu | |
| ENST00000376033.3:c.-10T>C MANE Select | ENSP00000365201.2:n.-10T>C | |
| ENST00000376007.8:c.-10T>C | ENSP00000365175.4:n.-10T>C | |
| ENST00000376033.2:c.-10T>C | ENSP00000365201.2:n.-10T>C | |
| ENST00000469577.5:n.136-1481T>C | ||
| NM_004638.3:c.-10T>C | NP_004629.3:n.-10T>C | |
| NM_080686.2:c.-10T>C | NP_542417.2:n.-10T>C | |
| XM_011514890.1:c.-10T>C | XP_011513192.1:n.-10T>C | |
| NM_004638.4:c.-10T>C MANE Select | NP_004629.3:n.-10T>C | |
| NM_080686.3:c.-10T>C | NP_542417.2:n.-10T>C |