Linked Data
dbSNP Id:
rs747001765
ExAC:
7:75933120 C / T
gnomAD v2:
7-75933120-C-T
gnomAD v4:
7-76303803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303803C>T , CM000669.2:g.76303803C>T | GRCh38 |
| NC_000007.13:g.75933120C>T , CM000669.1:g.75933120C>T | GRCh37 |
| NC_000007.12:g.75771056C>T | NCBI36 |
| NG_008995.1:g.6246C>T , LRG_248:g.6246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.366C>T MANE Select | ENSP00000248553.6:p.Gly122= | |
| ENST00000674547.1:c.366C>T | ENSP00000502461.1:p.Gly122= | |
| ENST00000674638.1:c.365-4C>T | ENSP00000502651.1:n.365-4C>T | |
| ENST00000674650.1:c.365-181C>T | ENSP00000501628.1:n.365-181C>T | |
| ENST00000674965.1:c.*22C>T | ENSP00000501765.1:n.*22C>T | |
| ENST00000675134.1:c.366C>T | ENSP00000501831.1:p.Gly122= | |
| ENST00000675226.1:c.369-4C>T | ENSP00000502510.1:n.369-4C>T | |
| ENST00000675417.1:n.599C>T | ||
| ENST00000675538.1:c.401C>T | ENSP00000502495.1:p.Ala134Val | |
| ENST00000675906.1:c.366C>T | ENSP00000502714.1:p.Gly122= | |
| ENST00000676195.1:n.82C>T | ||
| ENST00000676231.1:c.396C>T | ENSP00000502249.1:p.Gly132= | |
| ENST00000248553.6:c.366C>T | ENSP00000248553.6:p.Gly122= | |
| ENST00000429938.1:c.-139C>T | ENSP00000405285.1:n.-139C>T | |
| ENST00000447574.1:c.*530C>T | ENSP00000414357.1:n.*530C>T | |
| NM_001540.3:c.366C>T , LRG_248t1:c.366C>T | NP_001531.1:p.Gly122= | |
| NM_001540.4:c.366C>T | NP_001531.1:p.Gly122= | |
| NM_001540.5:c.366C>T MANE Select | NP_001531.1:p.Gly122= |