Linked Data
ClinVar Variation Id:
300514
ClinVar RCV Id:
RCV000349589
RCV000350842
RCV000389048
RCV001044241
RCV001833438
RCV002262951
RCV002520627
dbSNP Id:
rs202125074
ExAC:
10:73579491 G / A
gnomAD v2:
10-73579491-G-A
gnomAD v3:
10-71819734-G-A
gnomAD v4:
10-71819734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819734G>A , CM000672.2:g.71819734G>A | GRCh38 |
| NC_000010.10:g.73579491G>A , CM000672.1:g.73579491G>A | GRCh37 |
| NC_000010.9:g.73249497G>A | NCBI36 |
| NG_009301.1:g.36592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1172C>T MANE Select | ENSP00000378394.3:p.Thr391Met | |
| ENST00000394934.4:c.1181C>T | ENSP00000378392.2:p.Thr394Met | |
| ENST00000394936.7:c.1172C>T | ENSP00000378394.3:p.Thr391Met | |
| ENST00000610929.3:c.320C>T | ENSP00000480857.1:p.Thr107Met | |
| NM_001042465.1:c.1181C>T | NP_001035930.1:p.Thr394Met | |
| NM_001042466.1:c.1178C>T | NP_001035931.1:p.Thr393Met | |
| NM_002778.2:c.1172C>T | NP_002769.1:p.Thr391Met | |
| NM_001042465.2:c.1181C>T | NP_001035930.1:p.Thr394Met | |
| NM_001042466.2:c.1178C>T | NP_001035931.1:p.Thr393Met | |
| NM_002778.3:c.1172C>T | NP_002769.1:p.Thr391Met | |
| NM_002778.4:c.1172C>T MANE Select | NP_002769.1:p.Thr391Met | |
| NM_001042465.3:c.1181C>T | NP_001035930.1:p.Thr394Met | |
| NM_001042466.3:c.1178C>T | NP_001035931.1:p.Thr393Met |