Linked Data
ClinVar Variation Id:
393280
dbSNP Id:
rs193061079
ExAC:
19:42906155 C / T
gnomAD v2:
19-42906155-C-T
gnomAD v3:
19-42402003-C-T
gnomAD v4:
19-42402003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42402003C>T , CM000681.2:g.42402003C>T | GRCh38 |
| NC_000019.9:g.42906155C>T , CM000681.1:g.42906155C>T | GRCh37 |
| NC_000019.8:g.47597995C>T | NCBI36 |
| NG_034246.1:g.30424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244289.9:c.3040G>A (LIPE) MANE Select | ENSP00000244289.3:p.Val1014Met | |
| ENST00000244289.8:c.3040G>A (LIPE) | ENSP00000244289.3:p.Val1014Met | |
| ENST00000597620.5:c.728G>A (LIPE) | ||
| NM_005357.3:c.3040G>A (LIPE) | NP_005348.2:p.Val1014Met | |
| NR_073180.1:n.77+4779C>T (LIPE-AS1) | ||
| NR_126041.1:n.97+4779C>T | ||
| XM_005258937.3:c.2812G>A (LIPE) | XP_005258994.1:p.Val938Met | |
| XM_005258938.3:c.2275G>A (LIPE) | XP_005258995.1:p.Val759Met | |
| XM_005258939.3:c.2326G>A (LIPE) | XP_005258996.2:p.Val776Met | |
| XM_005258940.3:c.2137G>A (LIPE) | XP_005258997.1:p.Val713Met | |
| XM_005258941.3:c.2137G>A (LIPE) | XP_005258998.1:p.Val713Met | |
| XM_006723218.2:c.2137G>A (LIPE) | XP_006723281.1:p.Val713Met | |
| XM_005258938.5:c.2275G>A (LIPE) | XP_005258995.1:p.Val759Met | |
| XM_006723218.3:c.2137G>A (LIPE) | XP_006723281.1:p.Val713Met | |
| XM_017026810.1:c.2137G>A (LIPE) | XP_016882299.1:p.Val713Met | |
| XM_024451514.1:c.2047G>A (LIPE) | XP_024307282.1:p.Val683Met | |
| NM_005357.4:c.3040G>A (LIPE) MANE Select | NP_005348.2:p.Val1014Met |