Linked Data
ClinVar Variation Id:
508971
dbSNP Id:
rs147057295
ExAC:
12:57974918 C / T
gnomAD v2:
12-57974918-C-T
gnomAD v3:
12-57581135-C-T
gnomAD v4:
12-57581135-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581135C>T , CM000674.2:g.57581135C>T | GRCh38 |
| NC_000012.11:g.57974918C>T , CM000674.1:g.57974918C>T | GRCh37 |
| NC_000012.10:g.56261185C>T | NCBI36 |
| NG_008155.1:g.36072C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2718C>T MANE Select | ENSP00000408979.2:p.Tyr906= | |
| ENST00000674619.1:c.2739C>T | ENSP00000502270.1:p.Tyr913= | |
| ENST00000674776.1:c.226C>T | ENSP00000502434.1:n.226C>T | |
| ENST00000675634.1:c.180C>T | ENSP00000502231.1:p.Tyr60= | |
| ENST00000675737.1:n.122C>T | ||
| ENST00000675882.1:n.1940C>T | ||
| ENST00000675907.1:c.273C>T | ENSP00000502360.1:p.Tyr91= | |
| ENST00000675929.1:n.1276C>T | ||
| ENST00000676457.1:c.2613C>T | ENSP00000501588.1:p.Tyr871= | |
| ENST00000286452.5:c.2451C>T | ENSP00000286452.5:p.Tyr817= | |
| ENST00000455537.6:c.2718C>T | ENSP00000408979.2:p.Tyr906= | |
| NM_004984.2:c.2718C>T | NP_004975.2:p.Tyr906= | |
| NM_001354705.1:c.2451C>T | NP_001341634.1:p.Tyr817= | |
| NM_004984.3:c.2718C>T | NP_004975.2:p.Tyr906= | |
| XR_002957324.1:n.2951C>T | ||
| NM_004984.4:c.2718C>T MANE Select | NP_004975.2:p.Tyr906= | |
| NM_001354705.2:c.2451C>T | NP_001341634.1:p.Tyr817= |