Linked Data
ClinVar Variation Id:
2881464
ClinVar RCV Id:
RCV003597794
dbSNP Id:
rs2151558080
gnomAD v4:
17-31338045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338045C>T , CM000679.2:g.31338045C>T | GRCh38 |
| NC_000017.10:g.29665063C>T , CM000679.1:g.29665063C>T | GRCh37 |
| NC_000017.9:g.26689189C>T | NCBI36 |
| NG_009018.1:g.248069C>T , LRG_214:g.248069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6707C>T | ENSP00000512431.1:p.Pro2236Leu | |
| ENST00000684826.1:c.1289C>T | ENSP00000509994.1:p.Pro430Leu | |
| ENST00000684998.1:n.1983C>T | ||
| ENST00000687027.1:c.881C>T | ENSP00000508715.1:p.Pro294Leu | |
| ENST00000687863.1:n.3370C>T | ||
| ENST00000691014.1:c.6755C>T | ENSP00000510595.1:p.Pro2252Leu | |
| ENST00000693617.1:c.1289C>T | ENSP00000510031.1:p.Pro430Leu | |
| ENST00000358273.9:c.6725C>T MANE Select | ENSP00000351015.4:p.Pro2242Leu | |
| ENST00000356175.7:c.6662C>T | ENSP00000348498.3:p.Pro2221Leu | |
| ENST00000358273.8:c.6725C>T | ENSP00000351015.4:p.Pro2242Leu | |
| ENST00000456735.6:c.5660C>T | ENSP00000389907.2:p.Pro1887Leu | |
| ENST00000471572.6:c.108C>T | ||
| ENST00000579081.5:c.6861C>T | ENSP00000462408.1:n.6861C>T | |
| ENST00000581790.5:c.64+165C>T | ||
| ENST00000584328.1:n.139C>T | ||
| NM_000267.3:c.6662C>T , LRG_214t1:c.6662C>T | NP_000258.1:p.Pro2221Leu | |
| NM_001042492.2:c.6725C>T , LRG_214t2:c.6725C>T | NP_001035957.1:p.Pro2242Leu | |
| XM_005257983.1:c.6725C>T | XP_005258040.1:p.Pro2242Leu | |
| XM_005257984.1:c.6662C>T | XP_005258041.1:p.Pro2221Leu | |
| XM_006721922.1:c.6755C>T | XP_006721985.1:p.Pro2252Leu | |
| XM_006721923.2:c.6716C>T | XP_006721986.1:p.Pro2239Leu | |
| XM_006721924.1:c.6755C>T | XP_006721987.1:p.Pro2252Leu | |
| XM_006721925.1:c.6692C>T | XP_006721988.1:p.Pro2231Leu | |
| XM_006721926.2:c.6755C>T | XP_006721989.1:p.Pro2252Leu | |
| XM_006721927.1:c.6755C>T | XP_006721990.1:p.Pro2252Leu | |
| XM_011524852.1:c.6752C>T | XP_011523154.1:p.Pro2251Leu | |
| XM_011524853.1:c.6716C>T | XP_011523155.1:p.Pro2239Leu | |
| XM_011524854.1:c.6716C>T | XP_011523156.1:p.Pro2239Leu | |
| XM_011524855.1:c.6716C>T | XP_011523157.1:p.Pro2239Leu | |
| XM_011524856.1:c.6716C>T | XP_011523158.1:p.Pro2239Leu | |
| XM_011524857.1:c.6755C>T | XP_011523159.1:p.Pro2252Leu | |
| NM_001042492.3:c.6725C>T MANE Select | NP_001035957.1:p.Pro2242Leu |