Linked Data
ClinVar Variation Id:
3060308
ClinVar RCV Id:
RCV003977248
dbSNP Id:
rs2230365
ExAC:
6:31525448 C / T
gnomAD v2:
6-31525448-C-T
gnomAD v3:
6-31557671-C-T
gnomAD v4:
6-31557671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31557671C>T , CM000668.2:g.31557671C>T | GRCh38 |
| NC_000006.11:g.31525448C>T , CM000668.1:g.31525448C>T | GRCh37 |
| NC_000006.10:g.31633427C>T | NCBI36 |
| NG_012344.1:g.15821C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376148.9:c.378C>T MANE Select | ENSP00000365318.4:p.Ser126= | |
| ENST00000376145.8:c.378C>T | ENSP00000365315.4:p.Ser126= | |
| ENST00000376146.8:c.309C>T | ENSP00000365316.4:p.Ser103= | |
| ENST00000376148.8:c.378C>T | ENSP00000365318.4:p.Ser126= | |
| ENST00000473655.1:n.412C>T | ||
| ENST00000496233.1:c.*87C>T | ENSP00000437148.1:n.*87C>T | |
| NM_001144961.1:c.378C>T | NP_001138433.1:p.Ser126= | |
| NM_001144962.1:c.309C>T | NP_001138434.1:p.Ser103= | |
| NM_001144963.1:c.309C>T | NP_001138435.1:p.Ser103= | |
| NM_005007.3:c.378C>T | NP_004998.3:p.Ser126= | |
| XR_926695.1:n.117-7112G>A | ||
| NM_005007.4:c.378C>T MANE Select | NP_004998.3:p.Ser126= | |
| NM_001144961.2:c.378C>T | NP_001138433.1:p.Ser126= | |
| NM_001144962.2:c.309C>T | NP_001138434.1:p.Ser103= | |
| NM_001144963.2:c.309C>T | NP_001138435.1:p.Ser103= |