Linked Data
ClinVar Variation Id:
3162622
ClinVar RCV Id:
RCV004456021
dbSNP Id:
rs760800093
ExAC:
6:31928026 C / T
gnomAD v2:
6-31928026-C-T
gnomAD v3:
6-31960249-C-T
gnomAD v4:
6-31960249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31960249C>T , CM000668.2:g.31960249C>T | GRCh38 |
| NC_000006.11:g.31928026C>T , CM000668.1:g.31928026C>T | GRCh37 |
| NC_000006.10:g.32036005C>T | NCBI36 |
| NG_032652.1:g.6446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.266C>T | ENSP00000419905.1:p.Ser89Phe | |
| ENST00000483553.6:c.266C>T | ENSP00000420332.2:p.Ser89Phe | |
| ENST00000485349.6:n.307C>T | ||
| ENST00000491994.2:c.266C>T | ENSP00000417586.2:p.Ser89Phe | |
| ENST00000494058.6:n.323C>T | ||
| ENST00000697831.1:c.266C>T | ENSP00000513453.1:p.Ser89Phe | |
| ENST00000697832.1:n.342C>T | ||
| ENST00000697833.1:c.266C>T | ENSP00000513454.1:p.Ser89Phe | |
| ENST00000697834.1:n.318C>T | ||
| ENST00000697835.1:c.285C>T | ENSP00000513455.1:p.Val95= | |
| ENST00000697836.1:n.302C>T | ||
| ENST00000697837.1:c.266C>T | ENSP00000513456.1:p.Ser89Phe | |
| ENST00000697838.1:c.131C>T | ENSP00000513457.1:p.Ser44Phe | |
| ENST00000697839.1:n.288C>T | ||
| ENST00000697840.1:c.266C>T | ENSP00000513458.1:p.Ser89Phe | |
| ENST00000697841.1:n.277C>T | ||
| ENST00000697842.1:n.266C>T | ||
| ENST00000375394.7:c.266C>T MANE Select | ENSP00000364543.2:p.Ser89Phe | |
| ENST00000375394.6:c.266C>T | ENSP00000364543.2:p.Ser89Phe | |
| ENST00000461073.5:c.266C>T | ENSP00000419905.1:p.Ser89Phe | |
| ENST00000465703.5:n.318C>T | ||
| ENST00000474839.5:c.127-792C>T | ENSP00000420470.1:n.127-792C>T | |
| ENST00000488648.5:n.342C>T | ||
| ENST00000628157.1:c.127-792C>T | ENSP00000485707.1:n.127-792C>T | |
| NM_006929.4:c.266C>T | NP_008860.4:p.Ser89Phe | |
| XM_006715168.2:c.266C>T | XP_006715231.1:p.Ser89Phe | |
| XM_011514815.1:c.266C>T | XP_011513117.1:p.Ser89Phe | |
| XR_926301.1:n.354C>T | ||
| XM_011514815.3:c.266C>T | XP_011513117.1:p.Ser89Phe | |
| XR_001743586.2:n.302C>T | ||
| XR_926301.3:n.302C>T | ||
| NM_006929.5:c.266C>T MANE Select | NP_008860.4:p.Ser89Phe |