Linked Data
ClinVar Variation Id:
1631466
ClinVar RCV Id:
RCV002128091
dbSNP Id:
rs138218812
ExAC:
19:17953913 G / A
gnomAD v2:
19-17953913-G-A
gnomAD v3:
19-17843104-G-A
gnomAD v4:
19-17843104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843104G>A , CM000681.2:g.17843104G>A | GRCh38 |
| NC_000019.9:g.17953913G>A , CM000681.1:g.17953913G>A | GRCh37 |
| NC_000019.8:g.17814913G>A | NCBI36 |
| NG_007273.1:g.9888C>T , LRG_77:g.9888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.489C>T | ENSP00000513006.1:p.Leu163= | |
| ENST00000458235.7:c.489C>T MANE Select | ENSP00000391676.1:p.Leu163= | |
| ENST00000458235.5:c.489C>T | ENSP00000391676.1:p.Leu163= | |
| ENST00000526008.5:n.589C>T | ||
| ENST00000527031.5:n.579C>T | ||
| ENST00000527670.5:c.489C>T | ENSP00000432511.1:p.Leu163= | |
| ENST00000528293.1:n.504C>T | ||
| ENST00000534444.1:c.489C>T | ENSP00000436421.1:p.Leu163= | |
| NM_000215.3:c.489C>T , LRG_77t1:c.489C>T | NP_000206.2:p.Leu163= | |
| XM_005259896.2:c.618C>T | XP_005259953.1:p.Leu206= | |
| XM_006722745.2:c.489C>T | XP_006722808.1:p.Leu163= | |
| XM_011527990.1:c.618C>T | XP_011526292.1:p.Leu206= | |
| XM_011527991.1:c.618C>T | XP_011526293.1:p.Leu206= | |
| XR_430137.2:n.628C>T | ||
| XM_005259896.3:c.618C>T | XP_005259953.1:p.Leu206= | |
| XM_011527991.2:c.618C>T | XP_011526293.1:p.Leu206= | |
| NM_000215.4:c.489C>T MANE Select | NP_000206.2:p.Leu163= |