Linked Data
ClinVar Variation Id:
413315
dbSNP Id:
rs147599496
ExAC:
1:55524308 C / T
gnomAD v2:
1-55524308-C-T
gnomAD v3:
1-55058635-C-T
gnomAD v4:
1-55058635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058635C>T , CM000663.2:g.55058635C>T | GRCh38 |
| NC_000001.10:g.55524308C>T , CM000663.1:g.55524308C>T | GRCh37 |
| NC_000001.9:g.55296896C>T | NCBI36 |
| NG_009061.1:g.24089C>T , LRG_275:g.24089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1491C>T | ENSP00000501161.2:p.Gly497= | |
| ENST00000710286.1:c.1848C>T | ENSP00000518176.1:p.Gly616= | |
| ENST00000673903.1:c.1116C>T | ENSP00000501257.1:p.Gly372= | |
| ENST00000673913.1:c.231C>T | ENSP00000501161.1:p.Gly77= | |
| ENST00000302118.5:c.1491C>T MANE Select | ENSP00000303208.5:p.Gly497= | |
| ENST00000490692.1:n.2215C>T | ||
| NM_174936.3:c.1491C>T , LRG_275t1:c.1491C>T | NP_777596.2:p.Gly497= | |
| NR_110451.1:n.1098C>T | ||
| XM_011541193.1:c.612C>T | XP_011539495.1:p.Gly204= | |
| NM_174936.4:c.1491C>T MANE Select | NP_777596.2:p.Gly497= | |
| NR_110451.2:n.1098C>T |