Linked Data
dbSNP Id:
rs772097552
ExAC:
12:58158298 G / T
gnomAD v2:
12-58158298-G-T
gnomAD v3:
12-57764515-G-T
gnomAD v4:
12-57764515-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764515G>T , CM000674.2:g.57764515G>T | GRCh38 |
| NC_000012.11:g.58158298G>T , CM000674.1:g.58158298G>T | GRCh37 |
| NC_000012.10:g.56444565G>T | NCBI36 |
| NG_007076.1:g.7679C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1080C>A | ENSP00000518840.1:p.Leu360= | |
| ENST00000713545.1:c.*4C>A | ENSP00000518841.1:n.*4C>A | |
| ENST00000228606.9:c.999C>A MANE Select | ENSP00000228606.4:p.Leu333= | |
| ENST00000228606.8:c.999C>A | ENSP00000228606.4:p.Leu333= | |
| ENST00000546567.5:c.294C>A | ENSP00000449472.1:p.Leu98= | |
| ENST00000547344.5:n.1138C>A | ||
| NM_000785.3:c.999C>A | NP_000776.1:p.Leu333= | |
| NM_000785.4:c.999C>A MANE Select | NP_000776.1:p.Leu333= |