Linked Data
ClinVar Variation Id:
2694415
ClinVar RCV Id:
RCV003514708
dbSNP Id:
rs1842580175
gnomAD v4:
10-71834378-T-G
MyVariant Identifiers:
chr10:g.73594135T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71834378T>G , CM000672.2:g.71834378T>G | GRCh38 |
| NC_000010.10:g.73594135T>G , CM000672.1:g.73594135T>G | GRCh37 |
| NC_000010.9:g.73264141T>G | NCBI36 |
| NG_009301.1:g.21948A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.168A>C MANE Select | ENSP00000378394.3:p.Pro56= | |
| ENST00000394934.4:c.168A>C | ENSP00000378392.2:p.Pro56= | |
| ENST00000394936.7:c.168A>C | ENSP00000378394.3:p.Pro56= | |
| ENST00000610929.3:c.168A>C | ENSP00000480857.1:p.Pro56= | |
| NM_001042465.1:c.168A>C | NP_001035930.1:p.Pro56= | |
| NM_001042466.1:c.168A>C | NP_001035931.1:p.Pro56= | |
| NM_002778.2:c.168A>C | NP_002769.1:p.Pro56= | |
| NM_001042465.2:c.168A>C | NP_001035930.1:p.Pro56= | |
| NM_001042466.2:c.168A>C | NP_001035931.1:p.Pro56= | |
| NM_002778.3:c.168A>C | NP_002769.1:p.Pro56= | |
| NM_002778.4:c.168A>C MANE Select | NP_002769.1:p.Pro56= | |
| NM_001042465.3:c.168A>C | NP_001035930.1:p.Pro56= | |
| NM_001042466.3:c.168A>C | NP_001035931.1:p.Pro56= |