Linked Data
ClinVar Variation Id:
666479
ClinVar RCV Id:
RCV000844784
dbSNP Id:
rs1591363760
gnomAD v3:
11-108135187-C-T
gnomAD v4:
11-108135187-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108135187C>T , CM000673.2:g.108135187C>T | GRCh38 |
| NC_000011.9:g.108005914C>T , CM000673.1:g.108005914C>T | GRCh37 |
| NC_000011.8:g.107511124C>T | NCBI36 |
| NG_009888.1:g.18657C>T | |
| NG_009888.2:g.23483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.380C>T MANE Select | ENSP00000265838.4:p.Ala127Val | |
| ENST00000671707.1:n.475C>T | ||
| ENST00000672008.1:c.314+891C>T | ENSP00000500499.1:n.314+891C>T | |
| ENST00000672031.1:c.380C>T | ENSP00000500463.1:p.Ala127Val | |
| ENST00000672284.1:c.110C>T | ENSP00000500444.1:p.Ala37Val | |
| ENST00000672354.1:c.380C>T | ENSP00000500490.1:p.Ala127Val | |
| ENST00000672367.1:c.73-3711C>T | ENSP00000500209.1:n.73-3711C>T | |
| ENST00000672580.1:c.380C>T | ENSP00000500366.1:p.Ala127Val | |
| ENST00000672907.1:c.120+3233C>T | ENSP00000500928.1:n.120+3233C>T | |
| ENST00000673000.1:n.468C>T | ||
| ENST00000673531.1:c.110C>T | ENSP00000500163.1:p.Ala37Val | |
| ENST00000265838.8:c.380C>T | ENSP00000265838.4:p.Ala127Val | |
| ENST00000299355.10:c.380C>T | ENSP00000299355.6:p.Ala127Val | |
| ENST00000527942.5:c.110C>T | ENSP00000433568.1:p.Ala37Val | |
| ENST00000528370.1:c.186C>T | ||
| ENST00000531813.5:c.334+871C>T | ENSP00000435965.1:n.334+871C>T | |
| NM_000019.3:c.380C>T | NP_000010.1:p.Ala127Val | |
| XM_006718834.2:c.110C>T | XP_006718897.1:p.Ala37Val | |
| XM_006718835.2:c.110C>T | XP_006718898.1:p.Ala37Val | |
| XM_006718835.3:c.110C>T | XP_006718898.1:p.Ala37Val | |
| XM_017017681.1:c.110C>T | XP_016873170.1:p.Ala37Val | |
| XM_017017682.2:c.57+871C>T | XP_016873171.1:n.57+871C>T | |
| XM_017017683.2:c.57+871C>T | XP_016873172.1:n.57+871C>T | |
| XM_024448511.1:c.110C>T | XP_024304279.1:p.Ala37Val | |
| XM_024448512.1:c.110C>T | XP_024304280.1:p.Ala37Val | |
| XM_024448513.1:c.110C>T | XP_024304281.1:p.Ala37Val | |
| XM_024448514.1:c.110C>T | XP_024304282.1:p.Ala37Val | |
| XM_024448515.1:c.110C>T | XP_024304283.1:p.Ala37Val | |
| NM_000019.4:c.380C>T MANE Select | NP_000010.1:p.Ala127Val | |
| NM_001386677.1:c.380C>T | NP_001373606.1:p.Ala127Val | |
| NM_001386678.1:c.120+3233C>T | NP_001373607.1:n.120+3233C>T | |
| NM_001386679.1:c.83C>T | NP_001373608.1:p.Ala28Val | |
| NM_001386681.1:c.110C>T | NP_001373610.1:p.Ala37Val | |
| NM_001386682.1:c.110C>T | NP_001373611.1:p.Ala37Val | |
| NM_001386685.1:c.110C>T | NP_001373614.1:p.Ala37Val | |
| NM_001386686.1:c.110C>T | NP_001373615.1:p.Ala37Val | |
| NM_001386687.1:c.110C>T | NP_001373616.1:p.Ala37Val | |
| NM_001386688.1:c.110C>T | NP_001373617.1:p.Ala37Val | |
| NM_001386689.1:c.110C>T | NP_001373618.1:p.Ala37Val | |
| NM_001386690.1:c.110C>T | NP_001373619.1:p.Ala37Val | |
| NM_001386691.1:c.110C>T | NP_001373620.1:p.Ala37Val | |
| NR_170162.1:n.420C>T | ||
| NR_170163.1:n.468+871C>T |