Linked Data
dbSNP Id:
rs56245420
gnomAD v2:
4-142654270-A-T
gnomAD v3:
4-141733117-A-T
gnomAD v4:
4-141733117-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141733117A>T , CM000666.2:g.141733117A>T | GRCh38 |
| NC_000004.11:g.142654270A>T , CM000666.1:g.142654270A>T | GRCh37 |
| NC_000004.10:g.142873720A>T | NCBI36 |
| NG_029605.1:g.101522A>T | |
| NG_029605.2:g.101522A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320650.9:c.*269A>T MANE Select | ENSP00000323505.4:n.*269A>T | |
| ENST00000296545.11:c.*269A>T | ENSP00000296545.7:n.*269A>T | |
| ENST00000320650.8:c.*269A>T | ENSP00000323505.4:n.*269A>T | |
| ENST00000394159.2:c.677A>T | ENSP00000377714.1:n.677A>T | |
| ENST00000477265.5:c.*269A>T | ENSP00000436914.1:n.*269A>T | |
| ENST00000514653.5:c.*269A>T | ENSP00000422271.1:n.*269A>T | |
| ENST00000529613.5:c.*269A>T | ENSP00000435462.1:n.*269A>T | |
| NM_000585.4:c.*269A>T | NP_000576.1:n.*269A>T | |
| NM_172175.2:c.*269A>T | NP_751915.1:n.*269A>T | |
| NR_037840.2:n.1608A>T | ||
| NM_000585.5:c.*269A>T MANE Select | NP_000576.1:n.*269A>T | |
| NM_172175.3:c.*269A>T | NP_751915.1:n.*269A>T | |
| NR_037840.3:n.1621A>T |