Linked Data
ClinVar Variation Id:
309098
ClinVar RCV Id:
RCV000878604
dbSNP Id:
rs144444357
ExAC:
12:49483699 A / T
gnomAD v2:
12-49483699-A-T
gnomAD v3:
12-49089916-A-T
gnomAD v4:
12-49089916-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49089916A>T , CM000674.2:g.49089916A>T | GRCh38 |
| NC_000012.11:g.49483699A>T , CM000674.1:g.49483699A>T | GRCh37 |
| NC_000012.10:g.47769966A>T | NCBI36 |
| NG_008973.1:g.9904T>A | |
| NG_008973.2:g.9904T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649637.2:c.1134T>A MANE Select | ENSP00000497483.1:p.Thr378= | |
| ENST00000266991.2:c.1134T>A | ENSP00000266991.2:p.Thr378= | |
| NM_021044.2:c.1134T>A | NP_066382.1:p.Thr378= | |
| NM_021044.4:c.1134T>A MANE Select | NP_066382.1:p.Thr378= | |
| XM_017019380.1:c.993T>A | XP_016874869.1:p.Thr331= | |
| XM_017019381.1:c.792T>A | XP_016874870.1:p.Thr264= |