Linked Data
ClinVar Variation Id:
2908925
ClinVar RCV Id:
RCV003730026
dbSNP Id:
rs779043586
ExAC:
10:105794043 C / T
gnomAD v2:
10-105794043-C-T
gnomAD v3:
10-104034285-C-T
gnomAD v4:
10-104034285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034285C>T , CM000672.2:g.104034285C>T | GRCh38 |
| NC_000010.10:g.105794043C>T , CM000672.1:g.105794043C>T | GRCh37 |
| NC_000010.9:g.105784033C>T | NCBI36 |
| NG_007069.1:g.56596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3570G>A | ENSP00000358748.3:p.Pro1190= | |
| ENST00000648076.2:c.3816G>A MANE Select | ENSP00000497653.1:p.Pro1272= | |
| ENST00000353479.9:c.3816G>A | ENSP00000340937.5:p.Pro1272= | |
| ENST00000369733.7:c.3570G>A | ENSP00000358748.3:p.Pro1190= | |
| NM_000494.3:c.3816G>A | NP_000485.3:p.Pro1272= | |
| NM_000494.4:c.3816G>A MANE Select | NP_000485.3:p.Pro1272= |