Linked Data
ClinVar Variation Id:
358173
ClinVar RCV Id:
RCV000279018
dbSNP Id:
rs564127416
gnomAD v2:
6-81053604-C-T
gnomAD v3:
6-80343887-C-T
gnomAD v4:
6-80343887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343887C>T , CM000668.2:g.80343887C>T | GRCh38 |
| NC_000006.11:g.81053604C>T , CM000668.1:g.81053604C>T | GRCh37 |
| NC_000006.10:g.81110323C>T | NCBI36 |
| NG_009775.1:g.242261C>T | |
| NG_009775.2:g.242261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.*83C>T MANE Select | ENSP00000318351.5:n.*83C>T | |
| ENST00000320393.8:c.*83C>T | ENSP00000318351.5:n.*83C>T | |
| ENST00000356489.9:c.*8+75C>T | ENSP00000348880.5:n.*8+75C>T | |
| ENST00000491328.1:n.242+75C>T | ||
| NM_000056.3:c.*8+75C>T | NP_000047.1:n.*8+75C>T | |
| NM_183050.2:c.*83C>T | NP_898871.1:n.*83C>T | |
| NM_000056.4:c.*8+75C>T | NP_000047.1:n.*8+75C>T | |
| NM_001318975.1:c.*83C>T | NP_001305904.1:n.*83C>T | |
| NM_183050.3:c.*83C>T | NP_898871.1:n.*83C>T | |
| NR_134945.1:n.1440C>T | ||
| XM_011536024.3:c.*268C>T | XP_011534326.1:n.*268C>T | |
| XR_001743546.2:n.1068+70666C>T | ||
| XR_001743547.2:n.1068+70666C>T | ||
| XR_001743548.2:n.1068+70666C>T | ||
| XR_001743549.2:n.1068+70666C>T | ||
| XR_002956292.1:n.1068+70666C>T | ||
| NM_183050.4:c.*83C>T MANE Select | NP_898871.1:n.*83C>T | |
| NR_134945.2:n.1379C>T | ||
| NM_000056.5:c.*8+75C>T | NP_000047.1:n.*8+75C>T |