Linked Data
ClinVar Variation Id:
218568
dbSNP Id:
rs200393300
ExAC:
4:113567760 C / T
gnomAD v2:
4-113567760-C-T
gnomAD v3:
4-112646604-C-T
gnomAD v4:
4-112646604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112646604C>T , CM000666.2:g.112646604C>T | GRCh38 |
| NC_000004.11:g.113567760C>T , CM000666.1:g.113567760C>T | GRCh37 |
| NC_000004.10:g.113787209C>T | NCBI36 |
| NG_032779.1:g.14641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505034.6:c.320C>T | ENSP00000421541.2:p.Thr107Ile | |
| ENST00000505216.2:c.*79C>T | ENSP00000424116.1:n.*79C>T | |
| ENST00000694891.1:c.320C>T | ENSP00000511571.1:p.Thr107Ile | |
| ENST00000694892.1:n.460C>T | ||
| ENST00000694893.1:n.549C>T | ||
| ENST00000694894.1:c.320C>T | ENSP00000511572.1:p.Thr107Ile | |
| ENST00000694895.1:c.320C>T | ENSP00000511573.1:p.Thr107Ile | |
| ENST00000694896.1:c.320C>T | ENSP00000511574.1:p.Thr107Ile | |
| ENST00000694897.1:c.320C>T | ENSP00000511575.1:p.Thr107Ile | |
| ENST00000694898.1:c.320C>T | ENSP00000511576.1:p.Thr107Ile | |
| ENST00000694899.1:c.320C>T | ENSP00000511577.1:p.Thr107Ile | |
| ENST00000694900.1:c.320C>T | ENSP00000511578.1:p.Thr107Ile | |
| ENST00000694901.1:c.*79C>T | ENSP00000511579.1:n.*79C>T | |
| ENST00000694902.1:n.841C>T | ||
| ENST00000511529.2:c.320C>T | ENSP00000426376.2:p.Thr107Ile | |
| ENST00000512361.2:n.429C>T | ||
| ENST00000512589.6:c.*126C>T | ENSP00000426709.1:n.*126C>T | |
| ENST00000684864.1:c.320C>T | ENSP00000509993.1:p.Thr107Ile | |
| ENST00000688617.1:n.594C>T | ||
| ENST00000689262.1:n.1471C>T | ||
| ENST00000689844.1:c.320C>T | ENSP00000509899.1:p.Thr107Ile | |
| ENST00000690008.1:c.*79C>T | ENSP00000508938.1:n.*79C>T | |
| ENST00000692075.1:n.485C>T | ||
| ENST00000692168.1:n.408C>T | ||
| ENST00000692416.1:c.83C>T | ENSP00000509527.1:p.Thr28Ile | |
| ENST00000693375.1:c.83C>T | ENSP00000508585.1:p.Thr28Ile | |
| ENST00000693442.1:c.320C>T | ENSP00000509975.1:p.Thr107Ile | |
| ENST00000344442.10:c.320C>T MANE Select | ENSP00000344950.5:p.Thr107Ile | |
| ENST00000651579.1:c.320C>T | ENSP00000499190.1:p.Thr107Ile | |
| ENST00000324052.10:c.320C>T | ENSP00000314311.6:p.Thr107Ile | |
| ENST00000344442.9:c.320C>T | ENSP00000344950.5:p.Thr107Ile | |
| ENST00000505034.5:c.320C>T | ENSP00000421541.1:p.Thr107Ile | |
| ENST00000505216.1:c.*79C>T | ENSP00000424116.1:n.*79C>T | |
| ENST00000507443.1:c.320C>T | ENSP00000421963.1:p.Thr107Ile | |
| ENST00000508577.5:c.320C>T | ENSP00000426646.1:p.Thr107Ile | |
| ENST00000509061.5:c.341C>T | ENSP00000422626.1:p.Thr114Ile | |
| ENST00000509622.5:c.*79C>T | ENSP00000422451.1:n.*79C>T | |
| ENST00000513553.5:c.31-1115C>T | ENSP00000422013.1:n.31-1115C>T | |
| NM_001267039.1:c.341C>T | NP_001253968.1:p.Thr114Ile | |
| NM_015454.2:c.320C>T | NP_056269.1:p.Thr107Ile | |
| NM_016648.3:c.320C>T | NP_057732.2:p.Thr107Ile | |
| NR_049768.1:n.495C>T | ||
| XM_024454080.1:c.320C>T | XP_024309848.1:p.Thr107Ile | |
| XM_024454081.1:c.320C>T | XP_024309849.1:p.Thr107Ile | |
| XM_024454082.1:c.320C>T | XP_024309850.1:p.Thr107Ile | |
| XM_024454083.1:c.320C>T | XP_024309851.1:p.Thr107Ile | |
| XM_024454084.1:c.320C>T | XP_024309852.1:p.Thr107Ile | |
| XM_024454085.1:c.320C>T | XP_024309853.1:p.Thr107Ile | |
| XM_024454086.1:c.83C>T | XP_024309854.1:p.Thr28Ile | |
| XM_024454087.1:c.83C>T | XP_024309855.1:p.Thr28Ile | |
| XM_024454088.1:c.83C>T | XP_024309856.1:p.Thr28Ile | |
| XM_024454089.1:c.-481C>T | XP_024309857.1:n.-481C>T | |
| NM_016648.4:c.320C>T MANE Select | NP_057732.2:p.Thr107Ile | |
| NM_001370974.1:c.320C>T | NP_001357903.1:p.Thr107Ile | |
| NM_001370975.1:c.320C>T | NP_001357904.1:p.Thr107Ile | |
| NM_001370976.1:c.320C>T | NP_001357905.1:p.Thr107Ile | |
| NM_001370977.1:c.320C>T | NP_001357906.1:p.Thr107Ile | |
| NM_001370978.1:c.320C>T | NP_001357907.1:p.Thr107Ile | |
| NM_001370979.1:c.320C>T | NP_001357908.1:p.Thr107Ile | |
| NM_001370980.1:c.320C>T | NP_001357909.1:p.Thr107Ile | |
| NM_001370981.1:c.83C>T | NP_001357910.1:p.Thr28Ile | |
| NM_001370982.1:c.83C>T | NP_001357911.1:p.Thr28Ile | |
| NM_001267039.2:c.341C>T | NP_001253968.1:p.Thr114Ile | |
| NM_015454.3:c.320C>T | NP_056269.1:p.Thr107Ile | |
| NM_001267039.4:c.320C>T | NP_001253968.2:p.Thr107Ile |