Linked Data
dbSNP Id:
rs773121287
ExAC:
11:6415849 C / T
gnomAD v2:
11-6415849-C-T
gnomAD v4:
11-6394619-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394619C>T , CM000673.2:g.6394619C>T | GRCh38 |
| NC_000011.9:g.6415849C>T , CM000673.1:g.6415849C>T | GRCh37 |
| NC_000011.8:g.6372425C>T | NCBI36 |
| NG_011780.1:g.9195C>T | |
| NG_029615.1:g.29796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.*12C>T MANE Select | ENSP00000340409.4:n.*12C>T | |
| ENST00000342245.8:c.*12C>T | ENSP00000340409.4:n.*12C>T | |
| ENST00000526280.1:c.965C>T | ||
| ENST00000527275.5:c.*12C>T | ENSP00000435350.1:n.*12C>T | |
| ENST00000531303.5:c.*759C>T | ENSP00000432625.1:n.*759C>T | |
| ENST00000533123.5:c.*635C>T | ENSP00000435950.1:n.*635C>T | |
| ENST00000534405.5:c.*739C>T | ENSP00000434353.1:n.*739C>T | |
| NM_000543.4:c.*12C>T | NP_000534.3:n.*12C>T | |
| NM_001007593.2:c.*12C>T | NP_001007594.2:n.*12C>T | |
| XM_011520303.1:c.*12C>T | XP_011518605.1:n.*12C>T | |
| NM_001318087.1:c.*401C>T | NP_001305016.1:n.*401C>T | |
| NM_001318088.1:c.*12C>T | NP_001305017.1:n.*12C>T | |
| NM_001365135.1:c.*12C>T | NP_001352064.1:n.*12C>T | |
| NR_027400.2:n.1921C>T | ||
| NR_134502.1:n.1460C>T | ||
| XR_001747940.2:n.2093C>T | ||
| XR_002957158.1:n.2275C>T | ||
| NM_000543.5:c.*12C>T MANE Select | NP_000534.3:n.*12C>T | |
| NM_001007593.3:c.*12C>T | NP_001007594.2:n.*12C>T | |
| NM_001318087.2:c.*401C>T | NP_001305016.1:n.*401C>T | |
| NM_001318088.2:c.*12C>T | NP_001305017.1:n.*12C>T | |
| NM_001365135.2:c.*12C>T | NP_001352064.1:n.*12C>T | |
| NR_027400.3:n.1861C>T | ||
| NR_134502.2:n.1400C>T |