Linked Data
ClinVar Variation Id:
178126
dbSNP Id:
rs727504438
ExAC:
1:237947969 C / T
gnomAD v2:
1-237947969-C-T
gnomAD v3:
1-237784669-C-T
gnomAD v4:
1-237784669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784669C>T , CM000663.2:g.237784669C>T | GRCh38 |
| NC_000001.10:g.237947969C>T , CM000663.1:g.237947969C>T | GRCh37 |
| NC_000001.9:g.236014592C>T | NCBI36 |
| NG_008799.2:g.747268C>T | |
| NG_008799.3:g.747486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*4049C>T | ENSP00000499659.2:n.*4049C>T | |
| ENST00000659194.3:c.12945C>T | ENSP00000499653.3:p.Val4315= | |
| ENST00000660292.2:c.12978C>T | ENSP00000499787.2:p.Val4326= | |
| ENST00000659194.2:c.5134C>T | ||
| ENST00000366574.7:c.12957C>T MANE Select | ENSP00000355533.2:p.Val4319= | |
| ENST00000659194.1:c.5134C>T | ||
| ENST00000660292.1:c.3010C>T | ||
| ENST00000360064.7:c.12909C>T | ENSP00000353174.7:p.Val4303= | |
| ENST00000366574.6:c.12957C>T | ENSP00000355533.2:p.Val4319= | |
| ENST00000609119.1:n.4152C>T | ||
| NM_001035.2:c.12957C>T | NP_001026.2:p.Val4319= | |
| XM_006711802.2:c.13011C>T | XP_006711865.1:p.Val4337= | |
| XM_006711803.2:c.13008C>T | XP_006711866.1:p.Val4336= | |
| XM_006711804.2:c.12987C>T | XP_006711867.1:p.Val4329= | |
| XM_006711805.2:c.12981C>T | XP_006711868.1:p.Val4327= | |
| XM_006711806.2:c.12975C>T | XP_006711869.1:p.Val4325= | |
| XM_006711807.2:c.12951C>T | XP_006711870.1:p.Val4317= | |
| XM_006711808.2:c.12774C>T | XP_006711871.1:p.Val4258= | |
| XM_006711810.2:c.12918C>T | XP_006711873.1:p.Val4306= | |
| XM_006711802.3:c.13011C>T | XP_006711865.1:p.Val4337= | |
| XM_006711803.3:c.13008C>T | XP_006711866.1:p.Val4336= | |
| XM_006711804.3:c.12987C>T | XP_006711867.1:p.Val4329= | |
| XM_006711805.3:c.12981C>T | XP_006711868.1:p.Val4327= | |
| XM_006711806.3:c.12975C>T | XP_006711869.1:p.Val4325= | |
| XM_006711807.3:c.12951C>T | XP_006711870.1:p.Val4317= | |
| XM_006711808.3:c.12774C>T | XP_006711871.1:p.Val4258= | |
| XM_006711810.3:c.12918C>T | XP_006711873.1:p.Val4306= | |
| XM_017002028.1:c.12990C>T | XP_016857517.1:p.Val4330= | |
| NM_001035.3:c.12957C>T MANE Select | NP_001026.2:p.Val4319= |