Linked Data
ClinVar Variation Id:
376490
ClinVar RCV Id:
RCV000417635
RCV000423002
RCV000427082
RCV000427665
RCV000428413
RCV000433621
RCV000434861
RCV000437752
RCV000442437
RCV000443184
dbSNP Id:
rs1057519939
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179203763A>C , CM000665.2:g.179203763A>C | GRCh38 |
| NC_000003.11:g.178921551A>C , CM000665.1:g.178921551A>C | GRCh37 |
| NC_000003.10:g.180404245A>C | NCBI36 |
| NG_012113.2:g.60241A>C , LRG_310:g.60241A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.1033A>C MANE Select | ENSP00000263967.3:p.Asn345His | |
| ENST00000643187.1:c.1033A>C | ENSP00000493507.1:p.Asn345His | |
| ENST00000674534.1:n.787A>C | ||
| ENST00000675467.1:n.3840A>C | ||
| ENST00000675786.1:c.1033A>C | ENSP00000502323.1:p.Asn345His | |
| ENST00000263967.3:c.1033A>C | ENSP00000263967.3:p.Asn345His | |
| NM_006218.2:c.1033A>C , LRG_310t1:c.1033A>C | NP_006209.2:p.Asn345His | |
| XM_006713658.2:c.1033A>C | XP_006713721.1:p.Asn345His | |
| XM_011512894.1:c.1033A>C | XP_011511196.1:p.Asn345His | |
| NM_006218.3:c.1033A>C | NP_006209.2:p.Asn345His | |
| XM_006713658.4:c.1033A>C | XP_006713721.1:p.Asn345His | |
| XM_011512894.2:c.1033A>C | XP_011511196.1:p.Asn345His | |
| NM_006218.4:c.1033A>C MANE Select | NP_006209.2:p.Asn345His |