Linked Data
ClinVar Variation Id:
3130620
ClinVar RCV Id:
RCV004423017
dbSNP Id:
rs552739752
ExAC:
18:31324098 C / T
gnomAD v3:
18-33744134-C-T
gnomAD v4:
18-33744134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33744134C>T , CM000680.2:g.33744134C>T | GRCh38 |
| NC_000018.9:g.31324098C>T , CM000680.1:g.31324098C>T | GRCh37 |
| NC_000018.8:g.29578096C>T | NCBI36 |
| NG_055244.1:g.170558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.4289C>T | ENSP00000513003.1:p.Pro1430Leu | |
| ENST00000269197.12:c.4286C>T MANE Select | ENSP00000269197.4:p.Pro1429Leu | |
| ENST00000681521.1:c.4166C>T | ENSP00000506037.1:p.Pro1389Leu | |
| ENST00000269197.9:c.4286C>T | ENSP00000269197.4:p.Pro1429Leu | |
| NM_030632.1:c.4286C>T | NP_085135.1:p.Pro1429Leu | |
| XM_005258356.1:c.4289C>T | XP_005258413.1:p.Pro1430Leu | |
| XM_011526205.1:c.4262C>T | XP_011524507.1:p.Pro1421Leu | |
| XM_011526206.1:c.4208C>T | XP_011524508.1:p.Pro1403Leu | |
| XM_011526207.1:c.4208C>T | XP_011524509.1:p.Pro1403Leu | |
| XM_011526208.1:c.4169C>T | XP_011524510.1:p.Pro1390Leu | |
| XM_011526209.1:c.4118C>T | XP_011524511.1:p.Pro1373Leu | |
| XM_011526210.1:c.4118C>T | XP_011524512.1:p.Pro1373Leu | |
| XM_011526211.1:c.4118C>T | XP_011524513.1:p.Pro1373Leu | |
| XM_011526212.1:c.4118C>T | XP_011524514.1:p.Pro1373Leu | |
| XM_011526213.1:c.4118C>T | XP_011524515.1:p.Pro1373Leu | |
| XM_011526214.1:c.4118C>T | XP_011524516.1:p.Pro1373Leu | |
| XM_011526215.1:c.1250C>T | XP_011524517.1:p.Pro417Leu | |
| NM_030632.2:c.4286C>T | NP_085135.1:p.Pro1429Leu | |
| XM_011526205.2:c.4262C>T | XP_011524507.1:p.Pro1421Leu | |
| XM_011526206.2:c.4208C>T | XP_011524508.1:p.Pro1403Leu | |
| XM_011526213.2:c.4118C>T | XP_011524515.1:p.Pro1373Leu | |
| XM_017026012.1:c.4208C>T | XP_016881501.1:p.Pro1403Leu | |
| XM_017026013.1:c.4118C>T | XP_016881502.1:p.Pro1373Leu | |
| XM_017026014.2:c.4118C>T | XP_016881503.1:p.Pro1373Leu | |
| XM_024451269.1:c.4118C>T | XP_024307037.1:p.Pro1373Leu | |
| NM_030632.3:c.4286C>T MANE Select | NP_085135.1:p.Pro1429Leu |