Linked Data
ClinVar Variation Id:
376457
ClinVar RCV Id:
RCV000421026
RCV000421682
RCV000427631
RCV000431722
RCV000434180
RCV000442076
RCV000442198
dbSNP Id:
rs1057519917
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11124517A>T , CM000663.2:g.11124517A>T | GRCh38 |
| NC_000001.10:g.11184574A>T , CM000663.1:g.11184574A>T | GRCh37 |
| NC_000001.9:g.11107161A>T | NCBI36 |
| NG_033239.1:g.143035T>A , LRG_734:g.143035T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*2018T>A | ENSP00000515181.1:n.*2018T>A | |
| ENST00000703131.1:n.2644T>A | ||
| ENST00000703139.1:c.1280T>A | ||
| ENST00000703140.1:c.6430T>A | ENSP00000515197.1:p.Ser2144Thr | |
| ENST00000703141.1:c.*2160T>A | ENSP00000515198.1:n.*2160T>A | |
| ENST00000703142.1:c.*3473T>A | ENSP00000515199.1:n.*3473T>A | |
| ENST00000361445.9:c.6643T>A MANE Select | ENSP00000354558.4:p.Ser2215Thr | |
| ENST00000361445.8:c.6643T>A | ENSP00000354558.4:p.Ser2215Thr | |
| ENST00000376838.5:c.1258T>A | ENSP00000366034.1:p.Ser420Thr | |
| NM_004958.3:c.6643T>A , LRG_734t1:c.6643T>A | NP_004949.1:p.Ser2215Thr | |
| XM_005263438.1:c.6643T>A | XP_005263495.1:p.Ser2215Thr | |
| XR_244786.1:n.6764T>A | ||
| XM_005263438.2:c.6643T>A | XP_005263495.1:p.Ser2215Thr | |
| XM_017000900.1:c.5962T>A | XP_016856389.1:p.Ser1988Thr | |
| XM_017000901.1:c.5395T>A | XP_016856390.1:p.Ser1799Thr | |
| XM_024446187.1:c.6643T>A | XP_024301955.1:p.Ser2215Thr | |
| XR_001737087.1:n.6764T>A | ||
| NM_004958.4:c.6643T>A MANE Select | NP_004949.1:p.Ser2215Thr | |
| NM_001386500.1:c.6643T>A | NP_001373429.1:p.Ser2215Thr | |
| NM_001386501.1:c.5395T>A | NP_001373430.1:p.Ser1799Thr |