Linked Data
ClinVar Variation Id:
6002
dbSNP Id:
rs80338722
ExAC:
7:95813588 C / T
gnomAD v2:
7-95813588-C-T
gnomAD v3:
7-96184276-C-T
gnomAD v4:
7-96184276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96184276C>T , CM000669.2:g.96184276C>T | GRCh38 |
| NC_000007.13:g.95813588C>T , CM000669.1:g.95813588C>T | GRCh37 |
| NC_000007.12:g.95651524C>T | NCBI36 |
| NG_012247.1:g.142872G>A | |
| NG_012247.2:g.142872G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.1177+1G>A MANE Select | ENSP00000265631.6:n.1177+1G>A | |
| ENST00000265631.9:c.1177+1G>A | ENSP00000265631.5:n.1177+1G>A | |
| ENST00000416240.6:c.1180+1G>A | ENSP00000400101.2:n.1180+1G>A | |
| ENST00000484495.5:n.330+1G>A | ||
| ENST00000490072.5:n.244+1G>A | ||
| ENST00000492869.1:n.298+1G>A | ||
| NM_001160210.1:c.1180+1G>A | NP_001153682.1:n.1180+1G>A | |
| NM_014251.2:c.1177+1G>A | NP_055066.1:n.1177+1G>A | |
| NR_027662.1:n.1252+1G>A | ||
| XM_006715831.2:c.1210+1G>A | XP_006715894.1:n.1210+1G>A | |
| XM_011515727.1:c.1210+1G>A | XP_011514029.1:n.1210+1G>A | |
| XM_011515728.1:c.325+1G>A | XP_011514030.1:n.325+1G>A | |
| XM_006715831.4:c.1210+1G>A | XP_006715894.1:n.1210+1G>A | |
| XM_011515727.3:c.1210+1G>A | XP_011514029.1:n.1210+1G>A | |
| XM_017011663.1:c.1168+1G>A | XP_016867152.1:n.1168+1G>A | |
| XM_017011664.2:c.325+1G>A | XP_016867153.1:n.325+1G>A | |
| XM_017011665.1:c.325+1G>A | XP_016867154.1:n.325+1G>A | |
| XR_001744525.2:n.1348+1G>A | ||
| XR_002956405.1:n.1981+1G>A | ||
| NM_014251.3:c.1177+1G>A MANE Select | NP_055066.1:n.1177+1G>A | |
| NR_027662.2:n.1203+1G>A | ||
| NM_001160210.2:c.1180+1G>A | NP_001153682.1:n.1180+1G>A |