Linked Data
dbSNP Id:
rs779379621
ExAC:
1:11334047 C / T
gnomAD v2:
1-11334047-C-T
gnomAD v4:
1-11273990-C-T
COSMIC:
COSM2120047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273990C>T , CM000663.2:g.11273990C>T | GRCh38 |
| NC_000001.10:g.11334047C>T , CM000663.1:g.11334047C>T | GRCh37 |
| NC_000001.9:g.11256634C>T | NCBI36 |
| NG_009443.1:g.5793C>T | |
| NG_009443.2:g.5793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.459C>T MANE Select | ENSP00000366006.5:p.Ser153= | |
| ENST00000376804.2:c.459C>T | ENSP00000366000.1:p.Ser153= | |
| ENST00000376810.5:c.459C>T | ENSP00000366006.5:p.Ser153= | |
| ENST00000483738.1:c.57C>T | ENSP00000473453.1:p.Ser19= | |
| ENST00000486588.6:c.102C>T | ENSP00000473612.1:p.Ser34= | |
| NM_013319.2:c.459C>T | NP_037451.1:p.Ser153= | |
| XM_006710590.2:c.459C>T | XP_006710653.1:p.Ser153= | |
| XM_011541304.1:c.459C>T | XP_011539606.1:p.Ser153= | |
| XR_946616.1:n.793C>T | ||
| NM_001330349.1:c.459C>T | NP_001317278.1:p.Ser153= | |
| NM_001330350.1:c.459C>T | NP_001317279.1:p.Ser153= | |
| XR_946616.3:n.793C>T | ||
| NM_001330349.2:c.459C>T | NP_001317278.1:p.Ser153= | |
| NM_001330350.2:c.459C>T | NP_001317279.1:p.Ser153= | |
| NM_013319.3:c.459C>T MANE Select | NP_037451.1:p.Ser153= |