Linked Data
ClinVar Variation Id:
2294560
ClinVar RCV Id:
RCV002860073
dbSNP Id:
rs747750093
ExAC:
19:18710375 G / A
gnomAD v2:
19-18710375-G-A
gnomAD v3:
19-18599565-G-A
gnomAD v4:
19-18599565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599565G>A , CM000681.2:g.18599565G>A | GRCh38 |
| NC_000019.9:g.18710375G>A , CM000681.1:g.18710375G>A | GRCh37 |
| NC_000019.8:g.18571375G>A | NCBI36 |
| NG_013370.1:g.12286C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684169.1:c.397C>T | ENSP00000506849.1:p.Leu133= | |
| ENST00000392386.8:c.397C>T MANE Select | ENSP00000376188.2:p.Leu133= | |
| ENST00000392386.7:c.397C>T | ENSP00000376188.2:p.Leu133= | |
| NM_004750.4:c.397C>T | NP_004741.1:p.Leu133= | |
| XM_011528422.1:c.331C>T | XP_011526724.1:p.Leu111= | |
| XM_011528423.1:c.397C>T | XP_011526725.1:p.Leu133= | |
| XM_011528424.1:c.331C>T | XP_011526726.1:p.Leu111= | |
| XM_011528422.2:c.331C>T | XP_011526724.1:p.Leu111= | |
| XM_011528423.2:c.397C>T | XP_011526725.1:p.Leu133= | |
| XM_011528424.3:c.331C>T | XP_011526726.1:p.Leu111= | |
| NM_004750.5:c.397C>T MANE Select | NP_004741.1:p.Leu133= |