Linked Data
dbSNP Id:
rs143713091
gnomAD v2:
2-216209033-A-G
gnomAD v3:
2-215344310-A-G
gnomAD v4:
2-215344310-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215344310A>G , CM000664.2:g.215344310A>G | GRCh38 |
| NC_000002.11:g.216209033A>G , CM000664.1:g.216209033A>G | GRCh37 |
| NC_000002.10:g.215917278A>G | NCBI36 |
| NG_013002.1:g.37355A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236959.14:c.1228-469A>G MANE Select | ENSP00000236959.9:n.1228-469A>G | |
| ENST00000236959.13:c.1228-469A>G | ENSP00000236959.9:n.1228-469A>G | |
| ENST00000426233.1:c.233-469A>G | ||
| ENST00000435675.5:c.1225-469A>G | ENSP00000415935.1:n.1225-469A>G | |
| ENST00000443953.5:c.*1325-469A>G | ENSP00000406792.1:n.*1325-469A>G | |
| ENST00000446622.5:n.308-469A>G | ||
| ENST00000459796.1:n.39-469A>G | ||
| ENST00000467388.1:n.140-469A>G | ||
| ENST00000479093.5:n.143-469A>G | ||
| NM_004044.6:c.1228-469A>G | NP_004035.2:n.1228-469A>G | |
| XM_017004187.2:c.1228-469A>G | XP_016859676.1:n.1228-469A>G | |
| XM_024452919.1:c.1051-469A>G | XP_024308687.1:n.1051-469A>G | |
| NM_004044.7:c.1228-469A>G MANE Select | NP_004035.2:n.1228-469A>G |