Linked Data
dbSNP Id:
rs758294039
ExAC:
6:12292714 C / T
gnomAD v2:
6-12292714-C-T
gnomAD v4:
6-12292481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12292481C>T , CM000668.2:g.12292481C>T | GRCh38 |
| NC_000006.11:g.12292714C>T , CM000668.1:g.12292714C>T | GRCh37 |
| NC_000006.10:g.12400700C>T | NCBI36 |
| NG_016196.1:g.7186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.205C>T MANE Select | ENSP00000368683.5:p.Leu69= | |
| ENST00000379375.5:c.205C>T | ENSP00000368683.5:p.Leu69= | |
| NM_001168319.1:c.202C>T | NP_001161791.1:p.Leu68= | |
| NM_001955.4:c.205C>T | NP_001946.3:p.Leu69= | |
| XM_011514330.1:c.205C>T | XP_011512632.1:p.Leu69= | |
| XM_011514331.1:c.205C>T | XP_011512633.1:p.Leu69= | |
| XM_011514332.1:c.202C>T | XP_011512634.1:p.Leu68= | |
| XM_011514330.2:c.205C>T | XP_011512632.1:p.Leu69= | |
| XM_011514331.3:c.205C>T | XP_011512633.1:p.Leu69= | |
| XM_011514332.2:c.202C>T | XP_011512634.1:p.Leu68= | |
| XM_017010331.1:c.205C>T | XP_016865820.1:p.Leu69= | |
| NM_001955.5:c.205C>T MANE Select | NP_001946.3:p.Leu69= | |
| NM_001168319.2:c.202C>T | NP_001161791.1:p.Leu68= |