Linked Data
ClinVar Variation Id:
31140
ClinVar RCV Id:
RCV000024136
dbSNP Id:
rs140986055
ExAC:
16:89169073 C / T
gnomAD v2:
16-89169073-C-T
gnomAD v3:
16-89102665-C-T
gnomAD v4:
16-89102665-C-T
PubMed:
PMID:21841779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89102665C>T , CM000678.2:g.89102665C>T | GRCh38 |
| NC_000016.9:g.89169073C>T , CM000678.1:g.89169073C>T | GRCh37 |
| NC_000016.8:g.87696574C>T | NCBI36 |
| NG_031961.1:g.13857C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317447.9:c.728C>T | ENSP00000320646.4:p.Pro243Leu | |
| ENST00000614302.5:c.728C>T MANE Select | ENSP00000479130.1:p.Pro243Leu | |
| ENST00000649953.1:c.728C>T | ENSP00000497456.1:p.Pro243Leu | |
| ENST00000317447.8:c.728C>T | ENSP00000320646.4:p.Pro243Leu | |
| ENST00000378345.8:c.-68C>T | ENSP00000367596.4:n.-68C>T | |
| ENST00000406948.7:c.728C>T | ENSP00000384627.3:p.Pro243Leu | |
| ENST00000537895.5:c.-68C>T | ENSP00000439201.1:n.-68C>T | |
| ENST00000538340.5:c.53C>T | ENSP00000445870.1:p.Pro18Leu | |
| ENST00000540697.5:c.-68C>T | ENSP00000445397.1:n.-68C>T | |
| ENST00000542688.5:c.728C>T | ENSP00000446281.1:p.Pro243Leu | |
| ENST00000544543.5:c.-68C>T | ENSP00000442781.1:n.-68C>T | |
| ENST00000614302.4:c.728C>T | ENSP00000479130.1:p.Pro243Leu | |
| NM_001127214.3:c.728C>T | NP_001120686.1:p.Pro243Leu | |
| NM_001243279.2:c.728C>T | NP_001230208.1:p.Pro243Leu | |
| NM_001284316.1:c.-68C>T | NP_001271245.1:n.-68C>T | |
| NM_174917.4:c.728C>T | NP_777577.2:p.Pro243Leu | |
| NR_104293.1:n.1109C>T | ||
| XM_005256293.1:c.728C>T | XP_005256350.1:p.Pro243Leu | |
| XM_011522942.1:c.728C>T | XP_011521244.1:p.Pro243Leu | |
| XM_011522943.1:c.728C>T | XP_011521245.1:p.Pro243Leu | |
| XM_011522944.1:c.728C>T | XP_011521246.1:p.Pro243Leu | |
| XR_933238.1:n.1072C>T | ||
| XR_933239.1:n.1072C>T | ||
| XR_933240.1:n.1072C>T | ||
| XR_933241.1:n.1072C>T | ||
| NR_147928.1:n.1109C>T | ||
| NR_147929.1:n.1109C>T | ||
| XM_005256293.2:c.728C>T | XP_005256350.1:p.Pro243Leu | |
| XM_017023018.1:c.728C>T | XP_016878507.1:p.Pro243Leu | |
| XM_017023019.1:c.728C>T | XP_016878508.1:p.Pro243Leu | |
| XM_017023020.2:c.-4281C>T | XP_016878509.1:n.-4281C>T | |
| XM_017023021.1:c.728C>T | XP_016878510.1:p.Pro243Leu | |
| XM_024450186.1:c.-68C>T | XP_024305954.1:n.-68C>T | |
| XM_024450187.1:c.-68C>T | XP_024305955.1:n.-68C>T | |
| XR_001751864.2:n.1071C>T | ||
| XR_001751865.1:n.1071C>T | ||
| XR_933238.2:n.1071C>T | ||
| XR_933240.3:n.1071C>T | ||
| NM_001127214.4:c.728C>T | NP_001120686.1:p.Pro243Leu | |
| NM_001243279.3:c.728C>T MANE Select | NP_001230208.1:p.Pro243Leu | |
| NM_001284316.2:c.-68C>T | NP_001271245.1:n.-68C>T | |
| NM_174917.5:c.728C>T | NP_777577.2:p.Pro243Leu | |
| NR_104293.2:n.1066C>T | ||
| NR_147928.2:n.1066C>T | ||
| NR_147929.2:n.1066C>T |