Linked Data
ClinVar Variation Id:
1395487
ClinVar RCV Id:
RCV001891394
dbSNP Id:
rs1301597273
gnomAD v2:
19-12758373-G-C
gnomAD v4:
19-12647559-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647559G>C , CM000681.2:g.12647559G>C | GRCh38 |
| NC_000019.9:g.12758373G>C , CM000681.1:g.12758373G>C | GRCh37 |
| NC_000019.8:g.12619373G>C | NCBI36 |
| NG_008318.1:g.24219C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2704C>G MANE Select | ENSP00000395473.2:p.Leu902Val | |
| ENST00000221363.8:c.2701C>G | ENSP00000221363.4:p.Leu901Val | |
| ENST00000456935.6:c.2704C>G | ENSP00000395473.2:p.Leu902Val | |
| ENST00000466794.5:n.3294C>G | ||
| ENST00000469423.1:n.26C>G | ||
| ENST00000493218.5:n.115C>G | ||
| ENST00000597692.1:c.263C>G | ||
| NM_000528.3:c.2704C>G | NP_000519.2:p.Leu902Val | |
| NM_001173498.1:c.2701C>G | NP_001166969.1:p.Leu901Val | |
| XM_005259913.1:c.2707C>G | XP_005259970.1:p.Leu903Val | |
| XM_011528017.1:c.1603C>G | XP_011526319.1:p.Leu535Val | |
| XM_005259913.2:c.2707C>G | XP_005259970.1:p.Leu903Val | |
| XM_024451518.1:c.1603C>G | XP_024307286.1:p.Leu535Val | |
| NM_000528.4:c.2704C>G MANE Select | NP_000519.2:p.Leu902Val | |
| NM_001173498.2:c.2701C>G | NP_001166969.1:p.Leu901Val |