Linked Data
dbSNP Id:
rs2077496949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285349G>C , CM000681.2:g.40285349G>C | GRCh38 |
| NC_000019.9:g.40791256G>C , CM000681.1:g.40791256G>C | GRCh37 |
| NC_000019.8:g.45483096G>C | NCBI36 |
| NG_012038.2:g.5010C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391844.8:c.-299C>G | ENSP00000375719.4:n.-299C>G | |
| ENST00000392038.6:c.-253C>G | ENSP00000375892.2:n.-253C>G | |
| ENST00000424901.5:c.-253C>G | ENSP00000399532.2:n.-253C>G | |
| ENST00000578123.5:c.-85+99C>G | ENSP00000462022.1:n.-85+99C>G | |
| NM_001243027.2:c.-402C>G | NP_001229956.1:n.-402C>G | |
| NM_001243028.2:c.-309C>G | NP_001229957.1:n.-309C>G | |
| NM_001626.5:c.-253C>G | NP_001617.1:n.-253C>G | |
| XM_011526620.1:c.-85+99C>G | XP_011524922.1:n.-85+99C>G |