Linked Data
dbSNP Id:
rs3828474
gnomAD v2:
12-103246875-C-G
gnomAD v3:
12-102853097-C-G
gnomAD v4:
12-102853097-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102853097C>G , CM000674.2:g.102853097C>G | GRCh38 |
| NC_000012.11:g.103246875C>G , CM000674.1:g.103246875C>G | GRCh37 |
| NC_000012.10:g.101771005C>G | NCBI36 |
| NG_008690.1:g.69506G>C | |
| NG_008690.2:g.110314G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.707-147G>C MANE Select | ENSP00000448059.1:n.707-147G>C | |
| ENST00000307000.7:c.692-147G>C | ENSP00000303500.2:n.692-147G>C | |
| ENST00000549247.6:n.319G>C | ||
| ENST00000553106.5:c.707-147G>C | ENSP00000448059.1:n.707-147G>C | |
| NM_000277.1:c.707-147G>C | NP_000268.1:n.707-147G>C | |
| XM_011538422.1:c.707-147G>C | XP_011536724.1:n.707-147G>C | |
| NM_000277.2:c.707-147G>C | NP_000268.1:n.707-147G>C | |
| NM_001354304.1:c.707-147G>C | NP_001341233.1:n.707-147G>C | |
| NM_000277.3:c.707-147G>C MANE Select | NP_000268.1:n.707-147G>C | |
| NM_001354304.2:c.707-147G>C | NP_001341233.1:n.707-147G>C |