Linked Data
dbSNP Id:
rs1161349377
gnomAD v2:
12-103247980-C-G
gnomAD v3:
12-102854202-C-G
gnomAD v4:
12-102854202-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854202C>G , CM000674.2:g.102854202C>G | GRCh38 |
| NC_000012.11:g.103247980C>G , CM000674.1:g.103247980C>G | GRCh37 |
| NC_000012.10:g.101772110C>G | NCBI36 |
| NG_008690.1:g.68401G>C | |
| NG_008690.2:g.109209G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+934G>C MANE Select | ENSP00000448059.1:n.706+934G>C | |
| ENST00000307000.7:c.691+934G>C | ENSP00000303500.2:n.691+934G>C | |
| ENST00000553106.5:c.706+934G>C | ENSP00000448059.1:n.706+934G>C | |
| NM_000277.1:c.706+934G>C | NP_000268.1:n.706+934G>C | |
| XM_011538422.1:c.706+934G>C | XP_011536724.1:n.706+934G>C | |
| NM_000277.2:c.706+934G>C | NP_000268.1:n.706+934G>C | |
| NM_001354304.1:c.706+934G>C | NP_001341233.1:n.706+934G>C | |
| XM_017019370.2:c.*583G>C | XP_016874859.1:n.*583G>C | |
| NM_000277.3:c.706+934G>C MANE Select | NP_000268.1:n.706+934G>C | |
| NM_001354304.2:c.706+934G>C | NP_001341233.1:n.706+934G>C |