Linked Data
ClinVar Variation Id:
2841544
ClinVar RCV Id:
RCV003628387
gnomAD v4:
10-71819856-C-A
COSMIC:
COSM294050
MyVariant Identifiers:
chr10:g.73579613C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819856C>A , CM000672.2:g.71819856C>A | GRCh38 |
| NC_000010.10:g.73579613C>A , CM000672.1:g.73579613C>A | GRCh37 |
| NC_000010.9:g.73249619C>A | NCBI36 |
| NG_009301.1:g.36470G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1050G>T MANE Select | ENSP00000378394.3:p.Pro350= | |
| ENST00000394934.4:c.1059G>T | ENSP00000378392.2:p.Pro353= | |
| ENST00000394936.7:c.1050G>T | ENSP00000378394.3:p.Pro350= | |
| ENST00000493143.1:n.471G>T | ||
| ENST00000610929.3:c.271-73G>T | ENSP00000480857.1:n.271-73G>T | |
| ENST00000633965.1:c.460G>T | ||
| NM_001042465.1:c.1059G>T | NP_001035930.1:p.Pro353= | |
| NM_001042466.1:c.1056G>T | NP_001035931.1:p.Pro352= | |
| NM_002778.2:c.1050G>T | NP_002769.1:p.Pro350= | |
| NM_001042465.2:c.1059G>T | NP_001035930.1:p.Pro353= | |
| NM_001042466.2:c.1056G>T | NP_001035931.1:p.Pro352= | |
| NM_002778.3:c.1050G>T | NP_002769.1:p.Pro350= | |
| NM_002778.4:c.1050G>T MANE Select | NP_002769.1:p.Pro350= | |
| NM_001042465.3:c.1059G>T | NP_001035930.1:p.Pro353= | |
| NM_001042466.3:c.1056G>T | NP_001035931.1:p.Pro352= |