Linked Data
ClinVar Variation Id:
161839
ClinVar RCV Id:
RCV000149375
dbSNP Id:
rs193920871
COSMIC:
COSM1179915
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.188147153A>T , CM000666.2:g.188147153A>T | GRCh38 |
| NC_000004.11:g.189068307A>T , CM000666.1:g.189068307A>T | GRCh37 |
| NC_000004.10:g.189305301A>T | NCBI36 |
| NG_051631.1:g.13965A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332517.4:c.1188A>T MANE Select | ENSP00000327738.3:p.Lys396Asn | |
| ENST00000332517.3:c.1188A>T | ENSP00000327738.3:p.Lys396Asn | |
| ENST00000507581.5:n.648A>T | ||
| ENST00000512233.1:n.538A>T | ||
| NM_178556.3:c.1188A>T | NP_848651.2:p.Lys396Asn | |
| XM_006714207.2:c.1044A>T | XP_006714270.1:p.Lys348Asn | |
| XM_011531919.1:c.897A>T | XP_011530221.1:p.Lys299Asn | |
| NM_178556.4:c.1188A>T | NP_848651.2:p.Lys396Asn | |
| XM_006714207.3:c.1044A>T | XP_006714270.1:p.Lys348Asn | |
| XM_011531919.2:c.897A>T | XP_011530221.1:p.Lys299Asn | |
| XM_024454028.1:c.897A>T | XP_024309796.1:p.Lys299Asn | |
| XR_001741216.1:n.1328A>T | ||
| NM_178556.5:c.1188A>T MANE Select | NP_848651.2:p.Lys396Asn |