Linked Data
ClinVar Variation Id:
1406300
ClinVar RCV Id:
RCV001906869
dbSNP Id:
rs754702748
gnomAD v2:
10-73594137-G-A
gnomAD v3:
10-71834380-G-A
gnomAD v4:
10-71834380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71834380G>A , CM000672.2:g.71834380G>A | GRCh38 |
| NC_000010.10:g.73594137G>A , CM000672.1:g.73594137G>A | GRCh37 |
| NC_000010.9:g.73264143G>A | NCBI36 |
| NG_009301.1:g.21946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.166C>T MANE Select | ENSP00000378394.3:p.Pro56Ser | |
| ENST00000394934.4:c.166C>T | ENSP00000378392.2:p.Pro56Ser | |
| ENST00000394936.7:c.166C>T | ENSP00000378394.3:p.Pro56Ser | |
| ENST00000610929.3:c.166C>T | ENSP00000480857.1:p.Pro56Ser | |
| NM_001042465.1:c.166C>T | NP_001035930.1:p.Pro56Ser | |
| NM_001042466.1:c.166C>T | NP_001035931.1:p.Pro56Ser | |
| NM_002778.2:c.166C>T | NP_002769.1:p.Pro56Ser | |
| NM_001042465.2:c.166C>T | NP_001035930.1:p.Pro56Ser | |
| NM_001042466.2:c.166C>T | NP_001035931.1:p.Pro56Ser | |
| NM_002778.3:c.166C>T | NP_002769.1:p.Pro56Ser | |
| NM_002778.4:c.166C>T MANE Select | NP_002769.1:p.Pro56Ser | |
| NM_001042465.3:c.166C>T | NP_001035930.1:p.Pro56Ser | |
| NM_001042466.3:c.166C>T | NP_001035931.1:p.Pro56Ser |