Linked Data
ClinVar Variation Id:
708847
dbSNP Id:
rs142745694
ExAC:
19:42912146 G / A
gnomAD v2:
19-42912146-G-A
gnomAD v3:
19-42407994-G-A
gnomAD v4:
19-42407994-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42407994G>A , CM000681.2:g.42407994G>A | GRCh38 |
| NC_000019.9:g.42912146G>A , CM000681.1:g.42912146G>A | GRCh37 |
| NC_000019.8:g.47603986G>A | NCBI36 |
| NG_034246.1:g.24433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244289.9:c.1638C>T (LIPE) MANE Select | ENSP00000244289.3:p.Thr546= | |
| ENST00000244289.8:c.1638C>T (LIPE) | ENSP00000244289.3:p.Thr546= | |
| ENST00000602000.1:n.449C>T (LIPE) | ||
| NM_005357.3:c.1638C>T (LIPE) | NP_005348.2:p.Thr546= | |
| NR_073180.1:n.77+10770G>A (LIPE-AS1) | ||
| NR_126041.1:n.98-264G>A | ||
| XM_005258937.3:c.1638C>T (LIPE) | XP_005258994.1:p.Thr546= | |
| XM_005258938.3:c.873C>T (LIPE) | XP_005258995.1:p.Thr291= | |
| XM_005258939.3:c.924C>T (LIPE) | XP_005258996.2:p.Thr308= | |
| XM_005258940.3:c.735C>T (LIPE) | XP_005258997.1:p.Thr245= | |
| XM_005258941.3:c.735C>T (LIPE) | XP_005258998.1:p.Thr245= | |
| XM_006723218.2:c.735C>T (LIPE) | XP_006723281.1:p.Thr245= | |
| XM_005258938.5:c.873C>T (LIPE) | XP_005258995.1:p.Thr291= | |
| XM_006723218.3:c.735C>T (LIPE) | XP_006723281.1:p.Thr245= | |
| XM_017026810.1:c.735C>T (LIPE) | XP_016882299.1:p.Thr245= | |
| XM_024451514.1:c.873C>T (LIPE) | XP_024307282.1:p.Thr291= | |
| NM_005357.4:c.1638C>T (LIPE) MANE Select | NP_005348.2:p.Thr546= |