Linked Data
ClinVar Variation Id:
2075890
ClinVar RCV Id:
RCV002968018
dbSNP Id:
rs80338723
ExAC:
7:95799356 C / G
gnomAD v2:
7-95799356-C-G
gnomAD v4:
7-96170044-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96170044C>G , CM000669.2:g.96170044C>G | GRCh38 |
| NC_000007.13:g.95799356C>G , CM000669.1:g.95799356C>G | GRCh37 |
| NC_000007.12:g.95637292C>G | NCBI36 |
| NG_012247.1:g.157104G>C | |
| NG_012247.2:g.157104G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.1311+1G>C MANE Select | ENSP00000265631.6:n.1311+1G>C | |
| ENST00000265631.9:c.1311+1G>C | ENSP00000265631.5:n.1311+1G>C | |
| ENST00000416240.6:c.1314+1G>C | ENSP00000400101.2:n.1314+1G>C | |
| ENST00000484495.5:n.464+1G>C | ||
| ENST00000490072.5:n.378+1G>C | ||
| ENST00000492869.1:n.433G>C | ||
| NM_001160210.1:c.1314+1G>C | NP_001153682.1:n.1314+1G>C | |
| NM_014251.2:c.1311+1G>C | NP_055066.1:n.1311+1G>C | |
| NR_027662.1:n.1386+1G>C | ||
| XM_006715831.2:c.1344+1G>C | XP_006715894.1:n.1344+1G>C | |
| XM_011515727.1:c.1344+1G>C | XP_011514029.1:n.1344+1G>C | |
| XM_011515728.1:c.459+1G>C | XP_011514030.1:n.459+1G>C | |
| XM_006715831.4:c.1344+1G>C | XP_006715894.1:n.1344+1G>C | |
| XM_011515727.3:c.1344+1G>C | XP_011514029.1:n.1344+1G>C | |
| XM_017011663.1:c.1302+1G>C | XP_016867152.1:n.1302+1G>C | |
| XM_017011664.2:c.459+1G>C | XP_016867153.1:n.459+1G>C | |
| XM_017011665.1:c.459+1G>C | XP_016867154.1:n.459+1G>C | |
| XR_001744525.2:n.1482+1G>C | ||
| XR_002956405.1:n.2115+1G>C | ||
| NM_014251.3:c.1311+1G>C MANE Select | NP_055066.1:n.1311+1G>C | |
| NR_027662.2:n.1337+1G>C | ||
| NM_001160210.2:c.1314+1G>C | NP_001153682.1:n.1314+1G>C |