Linked Data
dbSNP Id:
rs933759226
gnomAD v2:
5-1394445-G-A
gnomAD v3:
5-1394330-G-A
gnomAD v4:
5-1394330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394330G>A , CM000667.2:g.1394330G>A | GRCh38 |
| NC_000005.9:g.1394445G>A , CM000667.1:g.1394445G>A | GRCh37 |
| NC_000005.8:g.1447445G>A | NCBI36 |
| NG_015885.1:g.56099C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*405C>T MANE Select | ENSP00000270349.9:n.*405C>T | |
| ENST00000270349.11:c.*405C>T | ENSP00000270349.9:n.*405C>T | |
| ENST00000512002.2:n.649C>T | ||
| NM_001044.4:c.*405C>T | NP_001035.1:n.*405C>T | |
| NM_001044.5:c.*405C>T MANE Select | NP_001035.1:n.*405C>T |