Linked Data
ClinVar Variation Id:
1962388
ClinVar RCV Id:
RCV002735088
dbSNP Id:
rs754509210
ExAC:
8:28574583 C / T
gnomAD v2:
8-28574583-C-T
gnomAD v4:
8-28717066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28717066C>T , CM000670.2:g.28717066C>T | GRCh38 |
| NC_000008.10:g.28574583C>T , CM000670.1:g.28574583C>T | GRCh37 |
| NC_000008.9:g.28630502C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696177.1:c.1007C>T | ENSP00000512467.1:p.Pro336Leu | |
| ENST00000696178.1:c.1007C>T | ENSP00000512468.1:p.Pro336Leu | |
| ENST00000696179.1:c.1007C>T | ENSP00000512469.1:p.Pro336Leu | |
| ENST00000696180.1:c.1007C>T | ENSP00000512470.1:p.Pro336Leu | |
| ENST00000696181.1:c.1007C>T | ENSP00000512471.1:p.Pro336Leu | |
| ENST00000696182.1:c.-114-14157C>T | ENSP00000512472.1:n.-114-14157C>T | |
| ENST00000696184.1:c.1007C>T | ENSP00000512473.1:p.Pro336Leu | |
| ENST00000696185.1:n.1640C>T | ||
| ENST00000696186.1:c.1007C>T | ENSP00000512474.1:p.Pro336Leu | |
| ENST00000220562.9:c.1007C>T MANE Select | ENSP00000220562.4:p.Pro336Leu | |
| ENST00000220562.8:c.1007C>T | ENSP00000220562.4:p.Pro336Leu | |
| ENST00000519886.5:n.631+1000C>T | ||
| ENST00000521532.5:c.42+6563C>T | ENSP00000431013.1:n.42+6563C>T | |
| ENST00000522698.1:c.213+169C>T | ||
| ENST00000523149.5:c.28-173C>T | ENSP00000428691.1:n.28-173C>T | |
| NM_001440.3:c.1007C>T | NP_001431.1:p.Pro336Leu | |
| NR_073468.1:n.188-14157C>T | ||
| NR_073469.1:n.763+1000C>T | ||
| XM_011544440.1:c.1007C>T | XP_011542742.1:p.Pro336Leu | |
| XM_011544440.3:c.1007C>T | XP_011542742.1:p.Pro336Leu | |
| XM_024447094.1:c.1007C>T | XP_024302862.1:p.Pro336Leu | |
| XM_024447095.1:c.1007C>T | XP_024302863.1:p.Pro336Leu | |
| XM_024447096.1:c.1007C>T | XP_024302864.1:p.Pro336Leu | |
| NM_001440.4:c.1007C>T MANE Select | NP_001431.1:p.Pro336Leu | |
| NR_073468.2:n.160-14157C>T | ||
| NR_073469.2:n.735+1000C>T |