Linked Data
ClinVar Variation Id:
21516
ClinVar RCV Id:
RCV000020706
dbSNP Id:
rs80338718
gnomAD v4:
7-96193036-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96193036C>G , CM000669.2:g.96193036C>G | GRCh38 |
| NC_000007.13:g.95822348C>G , CM000669.1:g.95822348C>G | GRCh37 |
| NC_000007.12:g.95660284C>G | NCBI36 |
| NG_012247.1:g.134112G>C | |
| NG_012247.2:g.134112G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.615+1G>C MANE Select | ENSP00000265631.6:n.615+1G>C | |
| ENST00000265631.9:c.615+1G>C | ENSP00000265631.5:n.615+1G>C | |
| ENST00000416240.6:c.615+1G>C | ENSP00000400101.2:n.615+1G>C | |
| NM_001160210.1:c.615+1G>C | NP_001153682.1:n.615+1G>C | |
| NM_014251.2:c.615+1G>C | NP_055066.1:n.615+1G>C | |
| NR_027662.1:n.690+1G>C | ||
| XM_006715831.2:c.648+1G>C | XP_006715894.1:n.648+1G>C | |
| XM_011515727.1:c.648+1G>C | XP_011514029.1:n.648+1G>C | |
| XM_006715831.4:c.648+1G>C | XP_006715894.1:n.648+1G>C | |
| XM_011515727.3:c.648+1G>C | XP_011514029.1:n.648+1G>C | |
| XM_017011663.1:c.606+1G>C | XP_016867152.1:n.606+1G>C | |
| XM_017011664.2:c.-144+1G>C | XP_016867153.1:n.-144+1G>C | |
| XM_017011665.1:c.-144+1G>C | XP_016867154.1:n.-144+1G>C | |
| XR_001744525.2:n.786+1G>C | ||
| XR_002956405.1:n.928+1G>C | ||
| NM_014251.3:c.615+1G>C MANE Select | NP_055066.1:n.615+1G>C | |
| NR_027662.2:n.641+1G>C | ||
| NM_001160210.2:c.615+1G>C | NP_001153682.1:n.615+1G>C |