Linked Data
ClinVar Variation Id:
1906472
ClinVar RCV Id:
RCV002586936
dbSNP Id:
rs1321835812
gnomAD v2:
8-42958715-C-T
gnomAD v4:
8-43103572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43103572C>T , CM000670.2:g.43103572C>T | GRCh38 |
| NC_000008.10:g.42958715C>T , CM000670.1:g.42958715C>T | GRCh37 |
| NC_000008.9:g.43077872C>T | NCBI36 |
| NG_033235.1:g.15067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.24C>T MANE Select | ENSP00000331258.5:p.Ser8= | |
| ENST00000518991.6:c.24C>T | ENSP00000429090.2:p.Ser8= | |
| ENST00000614426.2:c.24C>T | ENSP00000478821.2:p.Ser8= | |
| ENST00000674727.1:n.282C>T | ||
| ENST00000674782.1:c.24C>T | ENSP00000501683.1:p.Ser8= | |
| ENST00000674820.1:c.24C>T | ENSP00000502636.1:p.Ser8= | |
| ENST00000674937.1:c.24C>T | ENSP00000501823.1:p.Ser8= | |
| ENST00000675129.1:c.24C>T | ENSP00000501906.1:p.Ser8= | |
| ENST00000676178.1:c.24C>T | ENSP00000502007.1:p.Ser8= | |
| ENST00000676193.1:c.24C>T | ENSP00000502774.1:p.Ser8= | |
| ENST00000331373.9:c.24C>T | ENSP00000331258.5:p.Ser8= | |
| ENST00000518991.5:c.24C>T | ENSP00000429090.1:p.Ser8= | |
| ENST00000614426.1:c.24C>T | ENSP00000478821.1:p.Ser8= | |
| NM_001277971.1:c.24C>T | NP_001264900.1:p.Ser8= | |
| NM_032237.4:c.24C>T | NP_115613.1:p.Ser8= | |
| XM_011544668.1:c.24C>T | XP_011542970.1:p.Ser8= | |
| XM_011544669.1:c.24C>T | XP_011542971.1:p.Ser8= | |
| NM_032237.5:c.24C>T MANE Select | NP_115613.1:p.Ser8= | |
| NM_001277971.2:c.24C>T | NP_001264900.1:p.Ser8= |