Linked Data
ClinVar Variation Id:
795997
ClinVar RCV Id:
RCV000979354
dbSNP Id:
rs760412230
gnomAD v2:
19-42906030-G-A
gnomAD v4:
19-42401878-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42401878G>A , CM000681.2:g.42401878G>A | GRCh38 |
| NC_000019.9:g.42906030G>A , CM000681.1:g.42906030G>A | GRCh37 |
| NC_000019.8:g.47597870G>A | NCBI36 |
| NG_034246.1:g.30549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244289.9:c.3165C>T (LIPE) MANE Select | ENSP00000244289.3:p.Ala1055= | |
| ENST00000244289.8:c.3165C>T (LIPE) | ENSP00000244289.3:p.Ala1055= | |
| ENST00000597620.5:c.853C>T (LIPE) | ||
| NM_005357.3:c.3165C>T (LIPE) | NP_005348.2:p.Ala1055= | |
| NR_073180.1:n.77+4654G>A (LIPE-AS1) | ||
| NR_126041.1:n.97+4654G>A | ||
| XM_005258937.3:c.2937C>T (LIPE) | XP_005258994.1:p.Ala979= | |
| XM_005258938.3:c.2400C>T (LIPE) | XP_005258995.1:p.Ala800= | |
| XM_005258939.3:c.2451C>T (LIPE) | XP_005258996.2:p.Ala817= | |
| XM_005258940.3:c.2262C>T (LIPE) | XP_005258997.1:p.Ala754= | |
| XM_005258941.3:c.2262C>T (LIPE) | XP_005258998.1:p.Ala754= | |
| XM_006723218.2:c.2262C>T (LIPE) | XP_006723281.1:p.Ala754= | |
| XM_005258938.5:c.2400C>T (LIPE) | XP_005258995.1:p.Ala800= | |
| XM_006723218.3:c.2262C>T (LIPE) | XP_006723281.1:p.Ala754= | |
| XM_017026810.1:c.2262C>T (LIPE) | XP_016882299.1:p.Ala754= | |
| XM_024451514.1:c.2172C>T (LIPE) | XP_024307282.1:p.Ala724= | |
| NM_005357.4:c.3165C>T (LIPE) MANE Select | NP_005348.2:p.Ala1055= |