Linked Data
ClinVar Variation Id:
300516
ClinVar RCV Id:
RCV000264576
RCV000303307
RCV000304947
RCV000361976
RCV000973449
RCV001103918
RCV001103919
dbSNP Id:
rs138328594
ExAC:
10:73579607 G / A
gnomAD v2:
10-73579607-G-A
gnomAD v3:
10-71819850-G-A
gnomAD v4:
10-71819850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819850G>A , CM000672.2:g.71819850G>A | GRCh38 |
| NC_000010.10:g.73579607G>A , CM000672.1:g.73579607G>A | GRCh37 |
| NC_000010.9:g.73249613G>A | NCBI36 |
| NG_009301.1:g.36476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1056C>T MANE Select | ENSP00000378394.3:p.Ser352= | |
| ENST00000394934.4:c.1065C>T | ENSP00000378392.2:p.Ser355= | |
| ENST00000394936.7:c.1056C>T | ENSP00000378394.3:p.Ser352= | |
| ENST00000493143.1:n.477C>T | ||
| ENST00000610929.3:c.271-67C>T | ENSP00000480857.1:n.271-67C>T | |
| ENST00000633965.1:c.466C>T | ||
| NM_001042465.1:c.1065C>T | NP_001035930.1:p.Ser355= | |
| NM_001042466.1:c.1062C>T | NP_001035931.1:p.Ser354= | |
| NM_002778.2:c.1056C>T | NP_002769.1:p.Ser352= | |
| NM_001042465.2:c.1065C>T | NP_001035930.1:p.Ser355= | |
| NM_001042466.2:c.1062C>T | NP_001035931.1:p.Ser354= | |
| NM_002778.3:c.1056C>T | NP_002769.1:p.Ser352= | |
| NM_002778.4:c.1056C>T MANE Select | NP_002769.1:p.Ser352= | |
| NM_001042465.3:c.1065C>T | NP_001035930.1:p.Ser355= | |
| NM_001042466.3:c.1062C>T | NP_001035931.1:p.Ser354= |