Linked Data
dbSNP Id:
rs749945589
ExAC:
7:150558306 C / G
gnomAD v2:
7-150558306-C-G
gnomAD v4:
7-150861218-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150861218C>G , CM000669.2:g.150861218C>G | GRCh38 |
| NC_000007.13:g.150558306C>G , CM000669.1:g.150558306C>G | GRCh37 |
| NC_000007.12:g.150189239C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360937.9:c.*9C>G MANE Select | ENSP00000354193.4:n.*9C>G | |
| ENST00000360937.8:c.*9C>G | ENSP00000354193.4:n.*9C>G | |
| ENST00000416793.6:c.*9C>G | ENSP00000411613.2:n.*9C>G | |
| ENST00000467291.5:c.*9C>G | ENSP00000418328.1:n.*9C>G | |
| ENST00000480582.1:n.942C>G | ||
| ENST00000493429.5:c.*9C>G | ENSP00000418614.1:n.*9C>G | |
| ENST00000619575.1:c.*122C>G | ENSP00000481717.1:n.*122C>G | |
| ENST00000622116.4:c.*257C>G | ENSP00000481520.1:n.*257C>G | |
| NM_001091.3:c.*9C>G | NP_001082.2:n.*9C>G | |
| NM_001272072.1:c.*9C>G | NP_001259001.1:n.*9C>G | |
| XM_011516008.1:c.*9C>G | XP_011514310.1:n.*9C>G | |
| XM_011516009.1:c.*9C>G | XP_011514311.1:n.*9C>G | |
| XR_928169.1:n.295+15791G>C | ||
| XR_928170.1:n.425+7398G>C | ||
| XR_928171.1:n.297+15791G>C | ||
| XM_017011944.1:c.*9C>G | XP_016867433.1:n.*9C>G | |
| XM_017011945.1:c.*9C>G | XP_016867434.1:n.*9C>G | |
| XM_017011946.2:c.*9C>G | XP_016867435.1:n.*9C>G | |
| XM_017011947.1:c.*9C>G | XP_016867436.1:n.*9C>G | |
| XR_928169.2:n.301+15791G>C | ||
| XR_928171.2:n.301+15791G>C | ||
| NM_001091.4:c.*9C>G MANE Select | NP_001082.2:n.*9C>G | |
| NM_001272072.2:c.*9C>G | NP_001259001.1:n.*9C>G |