Linked Data
dbSNP Id:
rs2147262277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683804C>A , CM000685.2:g.48683804C>A | GRCh38 |
| NC_000023.10:g.48542193C>A , CM000685.1:g.48542193C>A | GRCh37 |
| NC_000023.9:g.48427137C>A | NCBI36 |
| NG_007877.1:g.5008C>A , LRG_125:g.5008C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698625.1:c.-34-16C>A | ENSP00000513844.1:n.-34-16C>A | |
| ENST00000376701.5:c.-50C>A MANE Select | ENSP00000365891.4:n.-50C>A | |
| ENST00000376701.4:c.-50C>A | ENSP00000365891.4:n.-50C>A | |
| ENST00000450772.5:c.-34-16C>A | ENSP00000410537.1:n.-34-16C>A | |
| NM_000377.2:c.-50C>A , LRG_125t1:c.-50C>A | NP_000368.1:n.-50C>A | |
| XM_011543977.1:c.-50C>A | XP_011542279.1:n.-50C>A | |
| XM_011543977.2:c.-50C>A | XP_011542279.1:n.-50C>A | |
| XM_017029786.1:c.-50C>A | XP_016885275.1:n.-50C>A | |
| NM_000377.3:c.-50C>A MANE Select | NP_000368.1:n.-50C>A |