Linked Data
dbSNP Id:
rs938027845
gnomAD v2:
1-26135916-G-C
gnomAD v3:
1-25809425-G-C
gnomAD v4:
1-25809425-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25809425G>C , CM000663.2:g.25809425G>C | GRCh38 |
| NC_000001.10:g.26135916G>C , CM000663.1:g.26135916G>C | GRCh37 |
| NC_000001.9:g.26008503G>C | NCBI36 |
| NG_009930.1:g.14250G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.702-258G>C | ENSP00000346109.5:n.702-258G>C | |
| ENST00000494537.2:c.771-258G>C | ENSP00000508308.1:n.771-258G>C | |
| ENST00000361547.7:c.873-258G>C MANE Select | ENSP00000355141.2:n.873-258G>C | |
| ENST00000354177.8:c.771-258G>C | ENSP00000346109.4:n.771-258G>C | |
| ENST00000361547.6:c.873-258G>C | ENSP00000355141.2:n.873-258G>C | |
| ENST00000374315.1:c.771-258G>C | ENSP00000363434.1:n.771-258G>C | |
| NM_020451.2:c.873-258G>C | NP_065184.2:n.873-258G>C | |
| NM_206926.1:c.771-258G>C | NP_996809.1:n.771-258G>C | |
| NM_020451.3:c.873-258G>C MANE Select | NP_065184.2:n.873-258G>C | |
| NM_206926.2:c.771-258G>C | NP_996809.1:n.771-258G>C |