Linked Data
ClinVar Variation Id:
3038150
ClinVar RCV Id:
RCV003919640
dbSNP Id:
rs34845648
ExAC:
2:233656142 C / T
gnomAD v2:
2-233656142-C-T
gnomAD v3:
2-232791432-C-T
gnomAD v4:
2-232791432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232791432C>T , CM000664.2:g.232791432C>T | GRCh38 |
| NC_000002.11:g.233656142C>T , CM000664.1:g.233656142C>T | GRCh37 |
| NC_000002.10:g.233364386C>T | NCBI36 |
| NG_011847.1:g.99128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373563.9:c.1268C>T MANE Select | ENSP00000362664.5:p.Pro423Leu | |
| ENST00000676848.1:c.614C>T | ENSP00000503313.1:p.Pro205Leu | |
| ENST00000677450.1:c.749C>T | ENSP00000503420.1:p.Pro250Leu | |
| ENST00000677591.1:c.524C>T | ENSP00000503061.1:p.Pro175Leu | |
| ENST00000678230.1:c.761C>T | ENSP00000504272.1:p.Pro254Leu | |
| ENST00000678339.1:c.524C>T | ENSP00000503437.1:p.Pro175Leu | |
| ENST00000678466.1:c.524C>T | ENSP00000504219.1:p.Pro175Leu | |
| ENST00000678885.1:c.524C>T | ENSP00000503563.1:p.Pro175Leu | |
| ENST00000373563.8:c.1268C>T | ENSP00000362664.4:p.Pro423Leu | |
| ENST00000409196.7:c.1250C>T | ENSP00000387070.3:p.Pro417Leu | |
| ENST00000409451.7:c.1331C>T | ENSP00000387170.3:p.Pro444Leu | |
| ENST00000409480.5:c.1334C>T | ENSP00000386765.1:p.Pro445Leu | |
| ENST00000409547.5:c.1268C>T | ENSP00000386537.1:p.Pro423Leu | |
| ENST00000423659.5:c.1097C>T | ENSP00000404195.1:p.Pro366Leu | |
| ENST00000440945.5:c.1250C>T | ENSP00000410297.1:p.Pro417Leu | |
| ENST00000458528.1:c.*261C>T | ENSP00000389322.1:n.*261C>T | |
| ENST00000629305.2:c.1334C>T | ENSP00000487548.1:p.Pro445Leu | |
| NM_001103146.1:c.1268C>T | NP_001096616.1:p.Pro423Leu | |
| NM_001103147.1:c.1331C>T | NP_001096617.1:p.Pro444Leu | |
| NM_001103148.1:c.1250C>T | NP_001096618.1:p.Pro417Leu | |
| NM_015575.3:c.1268C>T | NP_056390.2:p.Pro423Leu | |
| NR_103492.1:n.1381C>T | ||
| NM_001103146.3:c.1268C>T MANE Select | NP_001096616.1:p.Pro423Leu | |
| NM_001103147.2:c.1331C>T | NP_001096617.1:p.Pro444Leu | |
| NM_001103148.2:c.1250C>T | NP_001096618.1:p.Pro417Leu | |
| NM_015575.4:c.1268C>T | NP_056390.2:p.Pro423Leu |