Linked Data
dbSNP Id:
rs2057835294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47588494G>A , CM000685.2:g.47588494G>A | GRCh38 |
| NC_000023.10:g.47447893G>A , CM000685.1:g.47447893G>A | GRCh37 |
| NC_000023.9:g.47332837G>A | NCBI36 |
| NG_008437.1:g.36364C>T | |
| NG_012533.1:g.11204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.775-10993C>T MANE Select | ENSP00000295987.7:n.775-10993C>T | |
| ENST00000340666.5:c.775-10993C>T | ENSP00000343206.4:n.775-10993C>T | |
| ENST00000295987.11:c.775-10993C>T | ENSP00000295987.7:n.775-10993C>T | |
| ENST00000340666.4:c.775-10993C>T | ENSP00000343206.4:n.775-10993C>T | |
| NM_006950.3:c.775-10993C>T MANE Select | NP_008881.2:n.775-10993C>T | |
| NM_133499.2:c.775-10993C>T | NP_598006.1:n.775-10993C>T |