Linked Data
ClinVar Variation Id:
1014805
ClinVar RCV Id:
RCV001313591
dbSNP Id:
rs1554825266
gnomAD v4:
10-87958019-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87958019G>C , CM000672.2:g.87958019G>C | GRCh38 |
| NC_000010.10:g.89717776G>C , CM000672.1:g.89717776G>C | GRCh37 |
| NC_000010.9:g.89707756G>C | NCBI36 |
| NG_007466.2:g.99581G>C , LRG_311:g.99581G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.801G>C | ENSP00000514759.2:p.Lys267Asn | |
| ENST00000710265.1:c.801G>C | ENSP00000518161.1:p.Lys267Asn | |
| ENST00000472832.3:c.801G>C | ENSP00000483066.2:p.Lys267Asn | |
| ENST00000688158.2:n.1536G>C | ||
| ENST00000688922.2:c.*631G>C | ENSP00000508742.2:n.*631G>C | |
| ENST00000700021.1:c.756G>C | ENSP00000514757.1:p.Lys252Asn | |
| ENST00000700022.1:c.*140G>C | ENSP00000514758.1:n.*140G>C | |
| ENST00000700023.1:n.1959G>C | ||
| ENST00000700024.1:n.2193G>C | ||
| ENST00000700025.1:n.1570G>C | ||
| ENST00000700026.1:n.438G>C | ||
| ENST00000700029.1:c.635G>C | ||
| ENST00000706954.1:c.801G>C | ENSP00000516674.1:p.Lys267Asn | |
| ENST00000706955.1:c.*836G>C | ENSP00000516675.1:n.*836G>C | |
| ENST00000686459.1:c.*387G>C | ENSP00000508909.1:n.*387G>C | |
| ENST00000688158.1:c.*912G>C | ENSP00000509254.1:n.*912G>C | |
| ENST00000688308.1:c.801G>C | ENSP00000508752.1:p.Lys267Asn | |
| ENST00000688922.1:c.722G>C | ||
| ENST00000693560.1:c.1320G>C | ENSP00000509861.1:p.Lys440Asn | |
| ENST00000371953.8:c.801G>C MANE Select | ENSP00000361021.3:p.Lys267Asn | |
| ENST00000371953.7:c.801G>C | ENSP00000361021.3:p.Lys267Asn | |
| ENST00000472832.2:c.228G>C | ENSP00000483066.1:p.Lys76Asn | |
| NM_000314.5:c.801G>C | NP_000305.3:p.Lys267Asn | |
| NM_000314.6:c.801G>C | NP_000305.3:p.Lys267Asn | |
| NM_001304717.2:c.1320G>C | NP_001291646.2:p.Lys440Asn | |
| NM_001304718.1:c.210G>C | NP_001291647.1:p.Lys70Asn | |
| XM_006717926.2:c.756G>C | XP_006717989.1:p.Lys252Asn | |
| XM_011539981.1:c.801G>C | XP_011538283.1:p.Lys267Asn | |
| XM_011539982.1:c.705G>C | XP_011538284.1:p.Lys235Asn | |
| XR_945791.1:n.1371G>C | ||
| NM_000314.7:c.801G>C | NP_000305.3:p.Lys267Asn | |
| NM_001304717.5:c.1320G>C | NP_001291646.4:p.Lys440Asn | |
| NM_001304718.2:c.210G>C | NP_001291647.1:p.Lys70Asn | |
| NM_000314.8:c.801G>C MANE Select | NP_000305.3:p.Lys267Asn |