Linked Data
ClinVar Variation Id:
534097
ClinVar RCV Id:
RCV000641502
dbSNP Id:
rs1445308443
gnomAD v4:
12-57244097-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57244097C>A , CM000674.2:g.57244097C>A | GRCh38 |
| NC_000012.11:g.57637880C>A , CM000674.1:g.57637880C>A | GRCh37 |
| NC_000012.10:g.55924147C>A | NCBI36 |
| NG_033835.1:g.12097G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332782.7:c.987G>T MANE Select | ENSP00000329200.2:p.Lys329Asn | |
| ENST00000332782.6:c.987G>T | ENSP00000329200.2:p.Lys329Asn | |
| ENST00000546246.2:c.429G>T | ENSP00000441515.2:p.Lys143Asn | |
| ENST00000554578.5:c.870G>T | ENSP00000452068.1:p.Lys290Asn | |
| ENST00000557176.5:c.*47G>T | ENSP00000450740.1:n.*47G>T | |
| NM_001286256.1:c.870G>T | NP_001273185.1:p.Lys290Asn | |
| NM_001286257.1:c.429G>T | NP_001273186.1:p.Lys143Asn | |
| NM_145064.2:c.987G>T | NP_659501.1:p.Lys329Asn | |
| NR_104422.1:n.689G>T | ||
| XM_011538126.1:c.987G>T | XP_011536428.1:p.Lys329Asn | |
| XR_944515.1:n.1116G>T | ||
| XM_011538126.2:c.987G>T | XP_011536428.1:p.Lys329Asn | |
| XR_002957305.1:n.1286G>T | ||
| XR_944515.2:n.1116G>T | ||
| NM_145064.3:c.987G>T MANE Select | NP_659501.1:p.Lys329Asn | |
| NM_001286256.2:c.870G>T | NP_001273185.1:p.Lys290Asn | |
| NM_001286257.2:c.429G>T | NP_001273186.1:p.Lys143Asn | |
| NR_104422.2:n.683G>T |