Linked Data
ClinVar Variation Id:
235848
ClinVar RCV Id:
RCV000224749
dbSNP Id:
rs878853145
gnomAD v4:
X-48903017-C-T
PubMed:
PMID:25167861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48903017C>T , CM000685.2:g.48903017C>T | GRCh38 |
| NC_000023.10:g.48760294C>T , CM000685.1:g.48760294C>T | GRCh37 |
| NC_000023.9:g.48645238C>T | NCBI36 |
| NG_015967.1:g.10100C>T | |
| NG_015968.2:g.133G>A | |
| NG_034300.1:g.13942G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218224.9:c.731C>T | ENSP00000218224.4:p.Pro244Leu | |
| ENST00000376563.6:c.731C>T | ENSP00000365747.1:p.Pro244Leu | |
| ENST00000396763.6:c.731C>T | ENSP00000379985.1:p.Pro244Leu | |
| ENST00000443648.6:c.731C>T | ENSP00000414861.2:p.Pro244Leu | |
| ENST00000456306.2:c.122C>T | ENSP00000393013.2:p.Pro41Leu | |
| ENST00000472742.6:c.*148C>T | ENSP00000509191.1:n.*148C>T | |
| ENST00000474671.6:n.1886C>T | ||
| ENST00000477997.6:n.1680C>T | ||
| ENST00000486150.6:n.1986C>T | ||
| ENST00000692023.1:c.*1152C>T | ENSP00000509927.1:n.*1152C>T | |
| ENST00000447146.7:c.731C>T MANE Select | ENSP00000391759.2:p.Pro244Leu | |
| ENST00000651767.1:c.731C>T | ENSP00000498362.1:p.Pro244Leu | |
| ENST00000218224.8:c.731C>T | ENSP00000218224.4:p.Pro244Leu | |
| ENST00000247140.8:c.446C>T | ENSP00000247140.4:p.Pro149Leu | |
| ENST00000376563.5:c.731C>T | ENSP00000365747.1:p.Pro244Leu | |
| ENST00000376566.8:c.446C>T | ENSP00000365750.4:p.Pro149Leu | |
| ENST00000396763.5:c.731C>T | ENSP00000379985.1:p.Pro244Leu | |
| ENST00000447146.6:c.731C>T | ENSP00000391759.2:p.Pro244Leu | |
| ENST00000456306.1:c.412C>T | ||
| ENST00000463529.4:n.1077C>T | ||
| ENST00000465859.2:n.745C>T | ||
| ENST00000470059.5:n.945C>T | ||
| ENST00000470062.5:n.703C>T | ||
| ENST00000473764.5:n.1303C>T | ||
| ENST00000474671.5:n.791C>T | ||
| ENST00000477997.5:n.812C>T | ||
| NM_001032381.1:c.731C>T | NP_001027553.1:p.Pro244Leu | |
| NM_001032382.1:c.731C>T | NP_001027554.1:p.Pro244Leu | |
| NM_001032383.1:c.731C>T | NP_001027555.1:p.Pro244Leu | |
| NM_001032384.1:c.731C>T | NP_001027556.1:p.Pro244Leu | |
| NM_001167989.1:c.728C>T | NP_001161461.1:p.Pro243Leu | |
| NM_001167990.1:c.707C>T | NP_001161462.1:p.Pro236Leu | |
| NM_001167992.1:c.431C>T | NP_001161464.1:p.Pro144Leu | |
| NM_005710.2:c.731C>T | NP_005701.1:p.Pro244Leu | |
| NM_144495.2:c.446C>T | NP_652766.1:p.Pro149Leu | |
| XM_005272571.3:c.728C>T | XP_005272628.1:p.Pro243Leu | |
| XM_005272572.3:c.446C>T | XP_005272629.1:p.Pro149Leu | |
| XM_011543884.1:c.731C>T | XP_011542186.1:p.Pro244Leu | |
| XM_005272572.4:c.446C>T | XP_005272629.1:p.Pro149Leu | |
| XM_011543884.2:c.731C>T | XP_011542186.1:p.Pro244Leu | |
| XM_017029207.1:c.728C>T | XP_016884696.1:p.Pro243Leu | |
| NM_001032381.2:c.731C>T | NP_001027553.1:p.Pro244Leu | |
| NM_001032382.2:c.731C>T MANE Select | NP_001027554.1:p.Pro244Leu | |
| NM_001032383.2:c.731C>T | NP_001027555.1:p.Pro244Leu | |
| NM_001167989.2:c.728C>T | NP_001161461.1:p.Pro243Leu | |
| NM_001167990.2:c.707C>T | NP_001161462.1:p.Pro236Leu | |
| NM_144495.3:c.446C>T | NP_652766.1:p.Pro149Leu |