Linked Data
ClinVar Variation Id:
1125789
ClinVar RCV Id:
RCV001457602
dbSNP Id:
rs1239156445
gnomAD v4:
19-12650115-C-G
MyVariant Identifiers:
chr19:g.12760929C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12650115C>G , CM000681.2:g.12650115C>G | GRCh38 |
| NC_000019.9:g.12760929C>G , CM000681.1:g.12760929C>G | GRCh37 |
| NC_000019.8:g.12621929C>G | NCBI36 |
| NG_008318.1:g.21663G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2154G>C MANE Select | ENSP00000395473.2:p.Pro718= | |
| ENST00000221363.8:c.2151G>C | ENSP00000221363.4:p.Pro717= | |
| ENST00000456935.6:c.2154G>C | ENSP00000395473.2:p.Pro718= | |
| ENST00000466794.5:n.2744G>C | ||
| NM_000528.3:c.2154G>C | NP_000519.2:p.Pro718= | |
| NM_001173498.1:c.2151G>C | NP_001166969.1:p.Pro717= | |
| XM_005259913.1:c.2157G>C | XP_005259970.1:p.Pro719= | |
| XM_011528017.1:c.1053G>C | XP_011526319.1:p.Pro351= | |
| XM_005259913.2:c.2157G>C | XP_005259970.1:p.Pro719= | |
| XM_024451518.1:c.1053G>C | XP_024307286.1:p.Pro351= | |
| NM_000528.4:c.2154G>C MANE Select | NP_000519.2:p.Pro718= | |
| NM_001173498.2:c.2151G>C | NP_001166969.1:p.Pro717= |