Linked Data
dbSNP Id:
rs962170940
gnomAD v2:
10-55566246-A-C
gnomAD v3:
10-53806486-A-C
gnomAD v4:
10-53806486-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806486A>C , CM000672.2:g.53806486A>C | GRCh38 |
| NC_000010.10:g.55566246A>C , CM000672.1:g.55566246A>C | GRCh37 |
| NC_000010.9:g.55236252A>C | NCBI36 |
| NG_009191.2:g.999806T>G | |
| NG_009191.3:g.1827697T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.4175T>G | ||
| ENST00000644397.2:c.*93T>G MANE Select | ENSP00000495195.1:n.*93T>G | |
| ENST00000373965.6:c.*93T>G | ENSP00000363076.3:n.*93T>G | |
| ENST00000414778.5:c.*93T>G | ENSP00000410304.2:n.*93T>G | |
| ENST00000495484.5:c.*93T>G | ENSP00000480780.1:n.*93T>G | |
| ENST00000614895.4:c.*93T>G | ENSP00000478512.1:n.*93T>G | |
| ENST00000616114.4:c.*93T>G | ENSP00000483745.1:n.*93T>G | |
| ENST00000621708.4:c.*93T>G | ENSP00000484454.1:n.*93T>G | |
| NM_001142771.1:c.*93T>G | NP_001136243.1:n.*93T>G | |
| NM_001142772.1:c.*93T>G | NP_001136244.1:n.*93T>G | |
| NM_001354420.1:c.*93T>G | NP_001341349.1:n.*93T>G | |
| NM_001354429.1:c.*93T>G | NP_001341358.1:n.*93T>G | |
| XR_001747192.2:n.11608T>G | ||
| XR_001747193.2:n.11599T>G | ||
| NM_001142771.2:c.*93T>G | NP_001136243.1:n.*93T>G | |
| NM_001142772.2:c.*93T>G | NP_001136244.1:n.*93T>G | |
| NM_001354420.2:c.*93T>G | NP_001341349.1:n.*93T>G | |
| NM_001354429.2:c.*93T>G | NP_001341358.1:n.*93T>G | |
| NM_001384140.1:c.*93T>G MANE Select | NP_001371069.1:n.*93T>G |