Linked Data
ClinVar Variation Id:
904979
dbSNP Id:
rs1452611618
gnomAD v2:
6-137193385-C-T
gnomAD v4:
6-136872247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872247C>T , CM000668.2:g.136872247C>T | GRCh38 |
| NC_000006.11:g.137193385C>T , CM000668.1:g.137193385C>T | GRCh37 |
| NC_000006.10:g.137235078C>T | NCBI36 |
| NG_008462.1:g.54668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.797C>T MANE Select | ENSP00000315680.3:p.Thr266Ile | |
| ENST00000541292.6:c.*62C>T | ENSP00000441004.1:n.*62C>T | |
| ENST00000678002.1:c.485C>T | ||
| ENST00000678557.1:c.683C>T | ENSP00000502962.1:p.Thr228Ile | |
| ENST00000678593.1:c.802C>T | ENSP00000503841.1:n.802C>T | |
| ENST00000679286.1:c.677C>T | ENSP00000503168.1:p.Thr226Ile | |
| ENST00000318471.4:c.797C>T | ENSP00000315680.3:p.Thr266Ile | |
| NM_000288.3:c.797C>T | NP_000279.1:p.Thr266Ile | |
| XM_005267019.3:c.683C>T | XP_005267076.1:p.Thr228Ile | |
| XM_006715502.1:c.503C>T | XP_006715565.1:p.Thr168Ile | |
| XM_011535900.1:c.527-25895C>T | XP_011534202.1:n.527-25895C>T | |
| XM_005267019.4:c.683C>T | XP_005267076.1:p.Thr228Ile | |
| XM_006715502.2:c.503C>T | XP_006715565.1:p.Thr168Ile | |
| XM_017010934.2:c.527-25895C>T | XP_016866423.1:n.527-25895C>T | |
| NM_000288.4:c.797C>T MANE Select | NP_000279.1:p.Thr266Ile |