Linked Data
dbSNP Id:
rs190241660
gnomAD v2:
22-50961968-C-T
gnomAD v3:
22-50523539-C-T
gnomAD v4:
22-50523539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523539C>T , CM000684.2:g.50523539C>T | GRCh38 |
| NC_000022.10:g.50961968C>T , CM000684.1:g.50961968C>T | GRCh37 |
| NC_000022.9:g.49308834C>T | NCBI36 |
| NG_016235.1:g.7901G>A | |
| NG_021419.1:g.20324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420993.7:c.*164C>T MANE Select | ENSP00000410088.2:n.*164C>T | |
| NM_001185011.1:c.*164C>T | NP_001171940.1:n.*164C>T | |
| NM_152299.3:c.*164C>T | NP_689512.2:n.*164C>T | |
| XR_001755232.1:n.2192C>T | ||
| NM_152299.4:c.*164C>T MANE Select | NP_689512.2:n.*164C>T | |
| NM_001185011.2:c.*164C>T | NP_001171940.1:n.*164C>T |