Linked Data
ClinVar Variation Id:
376486
ClinVar RCV Id:
RCV000419432
RCV000418334
RCV000424578
RCV000424888
RCV000425958
RCV000431470
RCV000434729
RCV000436034
RCV000436247
RCV000443392
RCV000443538
dbSNP Id:
rs1057519937
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234285T>C , CM000665.2:g.179234285T>C | GRCh38 |
| NC_000003.11:g.178952073T>C , CM000665.1:g.178952073T>C | GRCh37 |
| NC_000003.10:g.180434767T>C | NCBI36 |
| NG_012113.2:g.90763T>C , LRG_310:g.90763T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.3128T>C MANE Select | ENSP00000263967.3:p.Met1043Thr | |
| ENST00000462255.2:n.2151T>C | ||
| ENST00000643187.1:c.*208T>C | ENSP00000493507.1:n.*208T>C | |
| ENST00000674534.1:n.4036T>C | ||
| ENST00000674622.1:c.1549T>C | ENSP00000502417.1:n.1549T>C | |
| ENST00000675467.1:n.5935T>C | ||
| ENST00000675786.1:c.*1695T>C | ENSP00000502323.1:n.*1695T>C | |
| ENST00000675796.1:n.3023T>C | ||
| ENST00000263967.3:c.3128T>C | ENSP00000263967.3:p.Met1043Thr | |
| NM_006218.2:c.3128T>C , LRG_310t1:c.3128T>C | NP_006209.2:p.Met1043Thr | |
| XM_006713658.2:c.3128T>C | XP_006713721.1:p.Met1043Thr | |
| XM_011512894.1:c.3128T>C | XP_011511196.1:p.Met1043Thr | |
| NM_006218.3:c.3128T>C | NP_006209.2:p.Met1043Thr | |
| XM_006713658.4:c.3128T>C | XP_006713721.1:p.Met1043Thr | |
| XM_011512894.2:c.3128T>C | XP_011511196.1:p.Met1043Thr | |
| NM_006218.4:c.3128T>C MANE Select | NP_006209.2:p.Met1043Thr |