Linked Data
dbSNP Id:
rs12917258
gnomAD v2:
15-101813339-C-G
gnomAD v3:
15-101273134-C-G
gnomAD v4:
15-101273134-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101273134C>G , CM000677.2:g.101273134C>G | GRCh38 |
| NC_000015.9:g.101813339C>G , CM000677.1:g.101813339C>G | GRCh37 |
| NC_000015.8:g.99630862C>G | NCBI36 |
| NG_013322.1:g.9362G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526049.6:c.485-278G>C MANE Select | ENSP00000433541.1:n.485-278G>C | |
| ENST00000398226.7:c.485-278G>C | ENSP00000381282.3:n.485-278G>C | |
| ENST00000526043.1:n.1778-278G>C | ||
| ENST00000526049.5:c.485-278G>C | ENSP00000433541.1:n.485-278G>C | |
| ENST00000528346.1:c.605-278G>C | ENSP00000434842.1:n.605-278G>C | |
| ENST00000531964.5:c.416-278G>C | ENSP00000433803.1:n.416-278G>C | |
| NM_018445.5:c.485-278G>C | NP_060915.2:n.485-278G>C | |
| NM_203472.2:c.485-278G>C | NP_982298.2:n.485-278G>C | |
| NM_018445.6:c.485-278G>C MANE Select | NP_060915.2:n.485-278G>C | |
| NM_203472.3:c.485-278G>C | NP_982298.2:n.485-278G>C |