Linked Data
ClinVar Variation Id:
210042
ClinVar RCV Id:
RCV000191987
dbSNP Id:
rs797045202
gnomAD v2:
8-145584336-C-T
gnomAD v4:
8-144360676-C-T
PubMed:
PMID:26072523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144360676C>T , CM000670.2:g.144360676C>T | GRCh38 |
| NC_000008.10:g.145584336C>T , CM000670.1:g.145584336C>T | GRCh37 |
| NC_000008.9:g.145555144C>T | NCBI36 |
| NG_032872.1:g.7120C>T | |
| NG_032872.2:g.7120C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329994.7:c.1088C>T | ENSP00000333638.2:p.Pro363Leu | |
| ENST00000526338.7:c.596C>T | ENSP00000433583.3:p.Pro199Leu | |
| ENST00000526752.3:c.131-127C>T | ENSP00000433796.1:n.131-127C>T | |
| ENST00000526779.3:c.*400C>T | ENSP00000436917.1:n.*400C>T | |
| ENST00000526891.2:c.824C>T | ENSP00000502670.1:p.Pro275Leu | |
| ENST00000527078.6:c.1088C>T | ENSP00000434728.1:p.Pro363Leu | |
| ENST00000532815.2:c.1088C>T | ENSP00000501933.1:p.Pro363Leu | |
| ENST00000533662.2:c.1088C>T | ENSP00000502274.1:p.Pro363Leu | |
| ENST00000534725.6:c.1088C>T | ENSP00000431965.2:p.Pro363Leu | |
| ENST00000643944.2:c.1088C>T MANE Select | ENSP00000496184.2:p.Pro363Leu | |
| ENST00000674779.1:c.*400C>T | ENSP00000501929.1:n.*400C>T | |
| ENST00000674821.1:c.*892C>T | ENSP00000502219.1:n.*892C>T | |
| ENST00000674870.1:c.1088C>T | ENSP00000502406.1:p.Pro363Leu | |
| ENST00000674929.1:c.596C>T | ENSP00000501554.1:p.Pro199Leu | |
| ENST00000675121.1:c.1088C>T | ENSP00000501993.1:p.Pro363Leu | |
| ENST00000675280.1:c.1088C>T | ENSP00000502796.1:p.Pro363Leu | |
| ENST00000675292.1:c.1088C>T | ENSP00000502652.1:p.Pro363Leu | |
| ENST00000675597.1:c.596C>T | ENSP00000501973.1:p.Pro199Leu | |
| ENST00000675787.1:c.1077C>T | ENSP00000502189.1:p.Pro359= | |
| ENST00000675888.1:c.1088C>T | ENSP00000502294.1:p.Pro363Leu | |
| ENST00000675998.1:n.736C>T | ||
| ENST00000676094.1:c.539C>T | ENSP00000502066.1:p.Pro180Leu | |
| ENST00000676358.1:c.*400C>T | ENSP00000501821.1:n.*400C>T | |
| ENST00000329994.6:c.1088C>T | ENSP00000333638.2:p.Pro363Leu | |
| ENST00000402965.5:c.1088C>T | ENSP00000385961.1:p.Pro363Leu | |
| ENST00000526752.1:c.131-127C>T | ENSP00000433796.1:n.131-127C>T | |
| ENST00000526779.1:c.*400C>T | ENSP00000436917.1:n.*400C>T | |
| ENST00000527078.5:c.1088C>T | ENSP00000434728.1:p.Pro363Leu | |
| ENST00000530047.5:c.1088C>T | ENSP00000435820.1:p.Pro363Leu | |
| ENST00000532887.5:c.1088C>T | ENSP00000436768.1:p.Pro363Leu | |
| NM_001253815.1:c.1088C>T | NP_001240744.1:p.Pro363Leu | |
| NM_001253816.1:c.1088C>T | NP_001240745.1:p.Pro363Leu | |
| NM_024531.4:c.1088C>T | NP_078807.1:p.Pro363Leu | |
| NR_045600.1:n.1580C>T | ||
| XM_006716658.1:c.1088C>T | XP_006716721.1:p.Pro363Leu | |
| XM_006716659.1:c.1088C>T | XP_006716722.1:p.Pro363Leu | |
| XM_006716660.1:c.1088C>T | XP_006716723.1:p.Pro363Leu | |
| XM_011517300.1:c.824C>T | XP_011515602.1:p.Pro275Leu | |
| NM_001363118.1:c.1088C>T | NP_001350047.1:p.Pro363Leu | |
| NM_001363120.1:c.1088C>T | NP_001350049.1:p.Pro363Leu | |
| NM_001363121.1:c.1088C>T | NP_001350050.1:p.Pro363Leu | |
| NM_001363122.1:c.596C>T | NP_001350051.1:p.Pro199Leu | |
| XM_011517300.2:c.824C>T | XP_011515602.1:p.Pro275Leu | |
| XM_017013821.1:c.596C>T | XP_016869310.1:p.Pro199Leu | |
| XM_017013822.1:c.596C>T | XP_016869311.1:p.Pro199Leu | |
| NM_001253815.2:c.1088C>T | NP_001240744.1:p.Pro363Leu | |
| NM_001253816.2:c.1088C>T | NP_001240745.1:p.Pro363Leu | |
| NM_001363118.2:c.1088C>T MANE Select | NP_001350047.1:p.Pro363Leu | |
| NM_001363120.2:c.1088C>T | NP_001350049.1:p.Pro363Leu | |
| NM_001363121.2:c.1088C>T | NP_001350050.1:p.Pro363Leu | |
| NM_001363122.2:c.596C>T | NP_001350051.1:p.Pro199Leu | |
| NM_024531.5:c.1088C>T | NP_078807.1:p.Pro363Leu | |
| NR_045600.2:n.1548C>T |