Linked Data
dbSNP Id:
rs746231288
ExAC:
7:150553546 C / G
gnomAD v2:
7-150553546-C-G
gnomAD v4:
7-150856458-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150856458C>G , CM000669.2:g.150856458C>G | GRCh38 |
| NC_000007.13:g.150553546C>G , CM000669.1:g.150553546C>G | GRCh37 |
| NC_000007.12:g.150184479C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.-13C>G MANE Select | ENSP00000354193.4:n.-13C>G | |
| ENST00000360937.8:c.-13C>G | ENSP00000354193.4:n.-13C>G | |
| ENST00000416793.6:c.-13C>G | ENSP00000411613.2:n.-13C>G | |
| ENST00000460213.1:c.-13C>G | ENSP00000418557.1:n.-13C>G | |
| ENST00000467291.5:c.-13C>G | ENSP00000418328.1:n.-13C>G | |
| ENST00000483043.1:c.-13C>G | ENSP00000417392.1:n.-13C>G | |
| ENST00000493429.5:c.-13C>G | ENSP00000418614.1:n.-13C>G | |
| ENST00000619575.1:c.-13C>G | ENSP00000481717.1:n.-13C>G | |
| ENST00000622116.4:c.-1435C>G | ENSP00000481520.1:n.-1435C>G | |
| NM_001091.3:c.-13C>G | NP_001082.2:n.-13C>G | |
| NM_001272072.1:c.-13C>G | NP_001259001.1:n.-13C>G | |
| XM_011516008.1:c.-13C>G | XP_011514310.1:n.-13C>G | |
| XM_011516009.1:c.-13C>G | XP_011514311.1:n.-13C>G | |
| XR_928169.1:n.296-15013G>C | ||
| XR_928170.1:n.425+12158G>C | ||
| XR_928171.1:n.298-15013G>C | ||
| XM_017011944.1:c.-13C>G | XP_016867433.1:n.-13C>G | |
| XM_017011945.1:c.-13C>G | XP_016867434.1:n.-13C>G | |
| XM_017011946.2:c.-13C>G | XP_016867435.1:n.-13C>G | |
| XM_017011947.1:c.-13C>G | XP_016867436.1:n.-13C>G | |
| XR_928169.2:n.302-15013G>C | ||
| XR_928171.2:n.302-15013G>C | ||
| NM_001091.4:c.-13C>G MANE Select | NP_001082.2:n.-13C>G | |
| NM_001272072.2:c.-13C>G | NP_001259001.1:n.-13C>G |