Linked Data
dbSNP Id:
rs10833
gnomAD v2:
4-142654547-T-C
gnomAD v3:
4-141733394-T-C
gnomAD v4:
4-141733394-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141733394T>C , CM000666.2:g.141733394T>C | GRCh38 |
| NC_000004.11:g.142654547T>C , CM000666.1:g.142654547T>C | GRCh37 |
| NC_000004.10:g.142873997T>C | NCBI36 |
| NG_029605.1:g.101799T>C | |
| NG_029605.2:g.101799T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320650.9:c.*546T>C MANE Select | ENSP00000323505.4:n.*546T>C | |
| ENST00000296545.11:c.*546T>C | ENSP00000296545.7:n.*546T>C | |
| ENST00000320650.8:c.*546T>C | ENSP00000323505.4:n.*546T>C | |
| ENST00000394159.2:c.954T>C | ENSP00000377714.1:n.954T>C | |
| ENST00000477265.5:c.*546T>C | ENSP00000436914.1:n.*546T>C | |
| NM_000585.4:c.*546T>C | NP_000576.1:n.*546T>C | |
| NM_172175.2:c.*546T>C | NP_751915.1:n.*546T>C | |
| NR_037840.2:n.1885T>C | ||
| NM_000585.5:c.*546T>C MANE Select | NP_000576.1:n.*546T>C | |
| NM_172175.3:c.*546T>C | NP_751915.1:n.*546T>C | |
| NR_037840.3:n.1898T>C |