Linked Data
ClinVar Variation Id:
2517777
ClinVar RCV Id:
RCV003248827
dbSNP Id:
rs374446513
ExAC:
18:31324470 C / T
gnomAD v2:
18-31324470-C-T
gnomAD v3:
18-33744506-C-T
gnomAD v4:
18-33744506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33744506C>T , CM000680.2:g.33744506C>T | GRCh38 |
| NC_000018.9:g.31324470C>T , CM000680.1:g.31324470C>T | GRCh37 |
| NC_000018.8:g.29578468C>T | NCBI36 |
| NG_055244.1:g.170930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.4661C>T | ENSP00000513003.1:p.Pro1554Leu | |
| ENST00000269197.12:c.4658C>T MANE Select | ENSP00000269197.4:p.Pro1553Leu | |
| ENST00000681521.1:c.4538C>T | ENSP00000506037.1:p.Pro1513Leu | |
| ENST00000269197.9:c.4658C>T | ENSP00000269197.4:p.Pro1553Leu | |
| NM_030632.1:c.4658C>T | NP_085135.1:p.Pro1553Leu | |
| XM_005258356.1:c.4661C>T | XP_005258413.1:p.Pro1554Leu | |
| XM_011526205.1:c.4634C>T | XP_011524507.1:p.Pro1545Leu | |
| XM_011526206.1:c.4580C>T | XP_011524508.1:p.Pro1527Leu | |
| XM_011526207.1:c.4580C>T | XP_011524509.1:p.Pro1527Leu | |
| XM_011526208.1:c.4541C>T | XP_011524510.1:p.Pro1514Leu | |
| XM_011526209.1:c.4490C>T | XP_011524511.1:p.Pro1497Leu | |
| XM_011526210.1:c.4490C>T | XP_011524512.1:p.Pro1497Leu | |
| XM_011526211.1:c.4490C>T | XP_011524513.1:p.Pro1497Leu | |
| XM_011526212.1:c.4490C>T | XP_011524514.1:p.Pro1497Leu | |
| XM_011526213.1:c.4490C>T | XP_011524515.1:p.Pro1497Leu | |
| XM_011526214.1:c.4490C>T | XP_011524516.1:p.Pro1497Leu | |
| XM_011526215.1:c.1622C>T | XP_011524517.1:p.Pro541Leu | |
| NM_030632.2:c.4658C>T | NP_085135.1:p.Pro1553Leu | |
| XM_011526205.2:c.4634C>T | XP_011524507.1:p.Pro1545Leu | |
| XM_011526206.2:c.4580C>T | XP_011524508.1:p.Pro1527Leu | |
| XM_011526213.2:c.4490C>T | XP_011524515.1:p.Pro1497Leu | |
| XM_017026012.1:c.4580C>T | XP_016881501.1:p.Pro1527Leu | |
| XM_017026013.1:c.4490C>T | XP_016881502.1:p.Pro1497Leu | |
| XM_017026014.2:c.4490C>T | XP_016881503.1:p.Pro1497Leu | |
| XM_024451269.1:c.4490C>T | XP_024307037.1:p.Pro1497Leu | |
| NM_030632.3:c.4658C>T MANE Select | NP_085135.1:p.Pro1553Leu |