Linked Data
ClinVar Variation Id:
420958
ClinVar RCV Id:
RCV000485367
dbSNP Id:
rs1064794817
COSMIC:
COSM1255292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210920040T>G , CM000663.2:g.210920040T>G | GRCh38 |
| NC_000001.10:g.211093382T>G , CM000663.1:g.211093382T>G | GRCh37 |
| NC_000001.9:g.209160005T>G | NCBI36 |
| NG_029777.1:g.219076A>C | |
| NG_029777.2:g.219076A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271751.10:c.1062A>C MANE Select | ENSP00000271751.4:p.Lys354Asn | |
| ENST00000367007.5:c.981A>C | ENSP00000355974.5:p.Lys327Asn | |
| ENST00000638357.1:c.395A>C | ||
| ENST00000638498.1:c.1062A>C | ENSP00000490983.1:p.Lys354Asn | |
| ENST00000638960.1:c.981A>C | ENSP00000492302.1:p.Lys327Asn | |
| ENST00000638983.1:c.952-58846A>C | ENSP00000492641.1:n.952-58846A>C | |
| ENST00000639385.1:n.430A>C | ||
| ENST00000639602.1:c.852A>C | ENSP00000492303.1:p.Lys284Asn | |
| ENST00000639754.1:n.1265A>C | ||
| ENST00000639952.1:c.981A>C | ENSP00000492697.1:p.Lys327Asn | |
| ENST00000640044.1:c.311-115874A>C | ENSP00000491434.1:n.311-115874A>C | |
| ENST00000640243.1:c.951+98824A>C | ENSP00000492803.1:n.951+98824A>C | |
| ENST00000640522.1:c.1032+98743A>C | ENSP00000491019.1:n.1032+98743A>C | |
| ENST00000640528.1:c.981A>C | ENSP00000491725.1:p.Lys327Asn | |
| ENST00000640566.1:c.311-144496A>C | ENSP00000491302.1:n.311-144496A>C | |
| ENST00000640710.1:c.981A>C | ENSP00000492513.1:p.Lys327Asn | |
| ENST00000640890.1:n.1083A>C | ||
| ENST00000271751.8:c.1062A>C | ENSP00000271751.4:p.Lys354Asn | |
| ENST00000367007.4:c.981A>C | ENSP00000355974.4:p.Lys327Asn | |
| NM_002238.3:c.981A>C | NP_002229.1:p.Lys327Asn | |
| NM_172362.2:c.1062A>C | NP_758872.1:p.Lys354Asn | |
| XM_011509514.1:c.-115A>C | XP_011507816.1:n.-115A>C | |
| XM_017001246.1:c.-115A>C | XP_016856735.1:n.-115A>C | |
| NM_172362.3:c.1062A>C MANE Select | NP_758872.1:p.Lys354Asn | |
| NM_002238.4:c.981A>C | NP_002229.1:p.Lys327Asn |