Linked Data
ClinVar Variation Id:
778846
ClinVar RCV Id:
RCV000959570
dbSNP Id:
rs2229614
ExAC:
19:42911558 C / T
gnomAD v2:
19-42911558-C-T
gnomAD v3:
19-42407406-C-T
gnomAD v4:
19-42407406-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42407406C>T , CM000681.2:g.42407406C>T | GRCh38 |
| NC_000019.9:g.42911558C>T , CM000681.1:g.42911558C>T | GRCh37 |
| NC_000019.8:g.47603398C>T | NCBI36 |
| NG_034246.1:g.25021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244289.9:c.1905G>A (LIPE) MANE Select | ENSP00000244289.3:p.Pro635= | |
| ENST00000244289.8:c.1905G>A (LIPE) | ENSP00000244289.3:p.Pro635= | |
| ENST00000602000.1:n.716G>A (LIPE) | ||
| NM_005357.3:c.1905G>A (LIPE) | NP_005348.2:p.Pro635= | |
| NR_073180.1:n.77+10182C>T (LIPE-AS1) | ||
| NR_126041.1:n.98-852C>T | ||
| XM_005258937.3:c.1905G>A (LIPE) | XP_005258994.1:p.Pro635= | |
| XM_005258938.3:c.1140G>A (LIPE) | XP_005258995.1:p.Pro380= | |
| XM_005258939.3:c.1191G>A (LIPE) | XP_005258996.2:p.Pro397= | |
| XM_005258940.3:c.1002G>A (LIPE) | XP_005258997.1:p.Pro334= | |
| XM_005258941.3:c.1002G>A (LIPE) | XP_005258998.1:p.Pro334= | |
| XM_006723218.2:c.1002G>A (LIPE) | XP_006723281.1:p.Pro334= | |
| XM_005258938.5:c.1140G>A (LIPE) | XP_005258995.1:p.Pro380= | |
| XM_006723218.3:c.1002G>A (LIPE) | XP_006723281.1:p.Pro334= | |
| XM_017026810.1:c.1002G>A (LIPE) | XP_016882299.1:p.Pro334= | |
| XM_024451514.1:c.1140G>A (LIPE) | XP_024307282.1:p.Pro380= | |
| NM_005357.4:c.1905G>A (LIPE) MANE Select | NP_005348.2:p.Pro635= |