Linked Data
ClinVar Variation Id:
425007
dbSNP Id:
rs371720347
ExAC:
12:57638005 T / A
gnomAD v2:
12-57638005-T-A
gnomAD v3:
12-57244222-T-A
gnomAD v4:
12-57244222-T-A
MyVariant Identifiers:
chr12:g.57638005T>A (hg19)
chr12:g.57638005_57638006delinsAC (hg19)
chr12:g.57244222T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57244222T>A , CM000674.2:g.57244222T>A | GRCh38 |
| NC_000012.11:g.57638005T>A , CM000674.1:g.57638005T>A | GRCh37 |
| NC_000012.10:g.55924272T>A | NCBI36 |
| NG_033835.1:g.11972A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332782.7:c.862A>T MANE Select | ENSP00000329200.2:p.Lys288Ter | |
| ENST00000332782.6:c.862A>T | ENSP00000329200.2:p.Lys288Ter | |
| ENST00000546246.2:c.304A>T | ENSP00000441515.2:p.Lys102Ter | |
| ENST00000554578.5:c.745A>T | ENSP00000452068.1:p.Lys249Ter | |
| ENST00000557176.5:c.237A>T | ENSP00000450740.1:p.Gly79= | |
| NM_001286256.1:c.745A>T | NP_001273185.1:p.Lys249Ter | |
| NM_001286257.1:c.304A>T | NP_001273186.1:p.Lys102Ter | |
| NM_145064.2:c.862A>T | NP_659501.1:p.Lys288Ter | |
| NR_104422.1:n.564A>T | ||
| XM_011538126.1:c.862A>T | XP_011536428.1:p.Lys288Ter | |
| XR_944515.1:n.991A>T | ||
| XM_011538126.2:c.862A>T | XP_011536428.1:p.Lys288Ter | |
| XR_002957305.1:n.1161A>T | ||
| XR_944515.2:n.991A>T | ||
| NM_145064.3:c.862A>T MANE Select | NP_659501.1:p.Lys288Ter | |
| NM_001286256.2:c.745A>T | NP_001273185.1:p.Lys249Ter | |
| NM_001286257.2:c.304A>T | NP_001273186.1:p.Lys102Ter | |
| NR_104422.2:n.558A>T |