Linked Data
dbSNP Id:
rs183675996
gnomAD v2:
1-161188925-T-C
gnomAD v3:
1-161219135-T-C
gnomAD v4:
1-161219135-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161219135T>C , CM000663.2:g.161219135T>C | GRCh38 |
| NC_000001.10:g.161188925T>C , CM000663.1:g.161188925T>C | GRCh37 |
| NC_000001.9:g.159455549T>C | NCBI36 |
| NG_029043.1:g.8839T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289902.2:c.*192T>C MANE Select | ENSP00000289902.1:n.*192T>C | |
| ENST00000289902.1:c.*192T>C | ENSP00000289902.1:n.*192T>C | |
| ENST00000367992.7:c.198+412T>C | ENSP00000356971.3:n.198+412T>C | |
| ENST00000490414.1:n.449T>C | ||
| NM_004106.1:c.*192T>C | NP_004097.1:n.*192T>C | |
| NM_004106.2:c.*192T>C MANE Select | NP_004097.1:n.*192T>C |