Linked Data
ClinVar Variation Id:
38232
ClinVar RCV Id:
RCV000031815
RCV000045797
RCV000131368
RCV000148437
RCV000484041
RCV001508342
RCV004541053
dbSNP Id:
rs56204128
ExAC:
13:32968922 T / C
gnomAD v2:
13-32968922-T-C
gnomAD v3:
13-32394785-T-C
gnomAD v4:
13-32394785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394785T>C , CM000675.2:g.32394785T>C | GRCh38 |
| NC_000013.10:g.32968922T>C , CM000675.1:g.32968922T>C | GRCh37 |
| NC_000013.9:g.31866922T>C | NCBI36 |
| NG_012772.3:g.84306T>C , LRG_293:g.84306T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9353T>C | ENSP00000434898.2:p.Met3118Thr | |
| ENST00000528762.2:c.*720T>C | ENSP00000433168.2:n.*720T>C | |
| ENST00000530893.7:c.8984T>C | ENSP00000499438.2:p.Met2995Thr | |
| ENST00000665585.2:c.*915T>C | ENSP00000499570.2:n.*915T>C | |
| ENST00000666593.2:c.*198T>C | ENSP00000499256.2:n.*198T>C | |
| ENST00000700202.2:c.9302T>C | ENSP00000514856.2:p.Met3101Thr | |
| ENST00000700202.1:c.1769T>C | ENSP00000514856.1:p.Met590Thr | |
| ENST00000700203.1:n.1480T>C | ||
| ENST00000380152.8:c.9353T>C MANE Select | ENSP00000369497.3:p.Met3118Thr | |
| ENST00000544455.6:c.9353T>C | ENSP00000439902.1:p.Met3118Thr | |
| ENST00000614259.2:c.9361T>C | ENSP00000506251.1:n.9361T>C | |
| ENST00000665585.1:c.2231T>C | ||
| ENST00000666593.1:c.375T>C | ENSP00000499256.1:n.375T>C | |
| ENST00000680887.1:c.9353T>C | ENSP00000505508.1:p.Met3118Thr | |
| ENST00000380152.7:c.9353T>C | ENSP00000369497.3:p.Met3118Thr | |
| ENST00000470094.1:c.310T>C | ||
| ENST00000544455.5:c.9353T>C | ENSP00000439902.1:p.Met3118Thr | |
| NM_000059.3:c.9353T>C , LRG_293t1:c.9353T>C | NP_000050.2:p.Met3118Thr | |
| XM_011535203.1:c.9353T>C | XP_011533505.1:p.Met3118Thr | |
| XM_011535204.1:c.9257T>C | XP_011533506.1:p.Met3086Thr | |
| NM_000059.4:c.9353T>C MANE Select | NP_000050.3:p.Met3118Thr |