Linked Data
ClinVar Variation Id:
512557
ClinVar RCV Id:
RCV001698000
dbSNP Id:
rs144581146
ExAC:
18:43678153 A / T
gnomAD v2:
18-43678153-A-T
gnomAD v3:
18-46098187-A-T
gnomAD v4:
18-46098187-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46098187A>T , CM000680.2:g.46098187A>T | GRCh38 |
| NC_000018.9:g.43678153A>T , CM000680.1:g.43678153A>T | GRCh37 |
| NC_000018.8:g.41932151A>T | NCBI36 |
| NG_041769.1:g.11047T>A | |
| NG_041769.2:g.16047T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.45T>A MANE Select | ENSP00000381736.5:p.Pro15= | |
| ENST00000282050.6:c.45T>A | ENSP00000282050.2:p.Pro15= | |
| ENST00000398752.10:c.45T>A | ENSP00000381736.5:p.Pro15= | |
| ENST00000585650.1:c.38+1116T>A | ENSP00000467983.1:n.38+1116T>A | |
| ENST00000586592.5:c.45T>A | ENSP00000466275.3:p.Pro15= | |
| ENST00000588390.1:n.109T>A | ||
| ENST00000589252.5:c.45T>A | ENSP00000466975.1:p.Pro15= | |
| ENST00000589869.5:c.-90-3056T>A | ENSP00000465497.1:n.-90-3056T>A | |
| ENST00000590156.5:c.45T>A | ENSP00000466309.1:p.Pro15= | |
| ENST00000590324.5:c.-276-3056T>A | ENSP00000465259.1:n.-276-3056T>A | |
| ENST00000590406.5:c.45T>A | ENSP00000468458.1:p.Pro15= | |
| ENST00000590448.5:n.118-3056T>A | ||
| ENST00000590665.5:c.45T>A | ENSP00000467037.1:p.Pro15= | |
| ENST00000591267.1:n.110T>A | ||
| ENST00000591981.5:c.45T>A | ENSP00000465805.2:p.Pro15= | |
| ENST00000592364.5:c.45T>A | ENSP00000468618.1:p.Pro15= | |
| ENST00000592989.1:c.-82-3064T>A | ENSP00000467830.1:n.-82-3064T>A | |
| ENST00000593152.6:c.-442T>A | ENSP00000465477.2:n.-442T>A | |
| NM_001001935.2:c.-179T>A | NP_001001935.1:n.-179T>A | |
| NM_001001937.1:c.45T>A | NP_001001937.1:p.Pro15= | |
| NM_001257334.1:c.45T>A | NP_001244263.1:p.Pro15= | |
| NM_001257335.1:c.-442T>A | NP_001244264.1:n.-442T>A | |
| NM_004046.5:c.45T>A | NP_004037.1:p.Pro15= | |
| XM_011526018.1:c.-90-3056T>A | XP_011524320.1:n.-90-3056T>A | |
| XM_017025789.1:c.45T>A | XP_016881278.1:p.Pro15= | |
| NM_004046.6:c.45T>A MANE Select | NP_004037.1:p.Pro15= | |
| NM_001001935.3:c.-179T>A | NP_001001935.1:n.-179T>A | |
| NM_001257334.2:c.45T>A | NP_001244263.1:p.Pro15= | |
| NM_001001937.2:c.45T>A | NP_001001937.1:p.Pro15= | |
| NM_001257335.2:c.-442T>A | NP_001244264.1:n.-442T>A |