Linked Data
ClinVar Variation Id:
360805
dbSNP Id:
rs886062461
gnomAD v2:
7-87104961-C-A
gnomAD v3:
7-87475645-C-A
gnomAD v4:
7-87475645-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87475645C>A , CM000669.2:g.87475645C>A | GRCh38 |
| NC_000007.13:g.87104961C>A , CM000669.1:g.87104961C>A | GRCh37 |
| NC_000007.12:g.86942897C>A | NCBI36 |
| NG_007118.1:g.9788G>T | |
| NG_007118.2:g.9788G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.-7+126G>T | ENSP00000352135.3:n.-7+126G>T | |
| ENST00000644106.1:c.-18G>T | ENSP00000493477.1:n.-18G>T | |
| ENST00000649586.2:c.-18G>T MANE Select | ENSP00000496956.2:n.-18G>T | |
| ENST00000265723.8:c.-18G>T | ENSP00000265723.4:n.-18G>T | |
| ENST00000358400.7:c.-18G>T | ENSP00000351172.3:n.-18G>T | |
| ENST00000359206.7:c.-18G>T | ENSP00000352135.3:n.-18G>T | |
| ENST00000417608.1:c.-6-174G>T | ENSP00000394511.1:n.-6-174G>T | |
| NM_000443.3:c.-18G>T | NP_000434.1:n.-18G>T | |
| NM_018849.2:c.-18G>T | NP_061337.1:n.-18G>T | |
| NM_018850.2:c.-18G>T | NP_061338.1:n.-18G>T | |
| XM_011516308.1:c.-7+126G>T | XP_011514610.1:n.-7+126G>T | |
| XM_011516309.1:c.-7+126G>T | XP_011514611.1:n.-7+126G>T | |
| XM_011516310.1:c.-7+126G>T | XP_011514612.1:n.-7+126G>T | |
| XM_011516311.1:c.-7+126G>T | XP_011514613.1:n.-7+126G>T | |
| XM_011516312.1:c.-7+126G>T | XP_011514614.1:n.-7+126G>T | |
| XM_011516313.1:c.-7+126G>T | XP_011514615.1:n.-7+126G>T | |
| XM_011516314.1:c.16-174G>T | XP_011514616.1:n.16-174G>T | |
| XR_927478.1:n.90+126G>T | ||
| XM_011516308.3:c.264+126G>T | XP_011514610.3:n.264+126G>T | |
| XM_011516309.3:c.264+126G>T | XP_011514611.3:n.264+126G>T | |
| XM_011516310.3:c.264+126G>T | XP_011514612.3:n.264+126G>T | |
| XM_011516311.3:c.264+126G>T | XP_011514613.3:n.264+126G>T | |
| XM_011516312.3:c.264+126G>T | XP_011514614.3:n.264+126G>T | |
| XM_011516313.3:c.264+126G>T | XP_011514615.2:n.264+126G>T | |
| XM_017012323.2:c.-18G>T | XP_016867812.1:n.-18G>T | |
| XR_001744809.2:n.765+126G>T | ||
| XR_001744810.2:n.760+126G>T | ||
| NM_000443.4:c.-18G>T MANE Select | NP_000434.1:n.-18G>T | |
| NM_018849.3:c.-18G>T | NP_061337.1:n.-18G>T | |
| NM_018850.3:c.-18G>T | NP_061338.1:n.-18G>T |