Linked Data
ClinVar Variation Id:
1150175
ClinVar RCV Id:
RCV001490689
dbSNP Id:
rs1262983903
gnomAD v2:
4-81121393-C-T
gnomAD v4:
4-80200239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80200239C>T , CM000666.2:g.80200239C>T | GRCh38 |
| NC_000004.11:g.81121393C>T , CM000666.1:g.81121393C>T | GRCh37 |
| NC_000004.10:g.81340417C>T | NCBI36 |
| NG_046725.1:g.19970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.159C>T MANE Select | ENSP00000406998.2:p.Asp53= | |
| ENST00000339711.8:c.159C>T | ENSP00000339764.4:p.Asp53= | |
| ENST00000415738.2:c.159C>T | ENSP00000406998.2:p.Asp53= | |
| ENST00000504452.5:c.159C>T | ENSP00000423985.1:p.Asp53= | |
| ENST00000515013.5:c.159C>T | ENSP00000425149.1:p.Asp53= | |
| NM_001099403.1:c.159C>T | NP_001092873.1:p.Asp53= | |
| NM_020226.3:c.159C>T | NP_064611.3:p.Asp53= | |
| XM_005263144.2:c.159C>T | XP_005263201.1:p.Asp53= | |
| XM_005263145.2:c.159C>T | XP_005263202.1:p.Asp53= | |
| XM_005263146.3:c.159C>T | XP_005263203.1:p.Asp53= | |
| XM_011532133.1:c.999C>T | XP_011530435.1:p.Asp333= | |
| XM_011532134.1:c.999C>T | XP_011530436.1:p.Asp333= | |
| XM_011532135.1:c.858C>T | XP_011530437.1:p.Asp286= | |
| XM_011532136.1:c.711C>T | XP_011530438.1:p.Asp237= | |
| XM_011532137.1:c.711C>T | XP_011530439.1:p.Asp237= | |
| XM_011532138.1:c.711C>T | XP_011530440.1:p.Asp237= | |
| XM_011532139.1:c.711C>T | XP_011530441.1:p.Asp237= | |
| XM_011532140.1:c.711C>T | XP_011530442.1:p.Asp237= | |
| XM_011532141.1:c.573C>T | XP_011530443.1:p.Asp191= | |
| XM_011532142.1:c.552C>T | XP_011530444.1:p.Asp184= | |
| XM_005263146.4:c.159C>T | XP_005263203.1:p.Asp53= | |
| XM_011532133.2:c.999C>T | XP_011530435.1:p.Asp333= | |
| XM_011532135.2:c.858C>T | XP_011530437.1:p.Asp286= | |
| XM_011532140.2:c.711C>T | XP_011530442.1:p.Asp237= | |
| XM_011532141.3:c.573C>T | XP_011530443.1:p.Asp191= | |
| XM_017008468.1:c.711C>T | XP_016863957.1:p.Asp237= | |
| XM_017008469.1:c.795C>T | XP_016863958.1:p.Asp265= | |
| XM_017008470.1:c.711C>T | XP_016863959.1:p.Asp237= | |
| NM_001099403.2:c.159C>T MANE Select | NP_001092873.1:p.Asp53= | |
| NM_020226.4:c.159C>T | NP_064611.3:p.Asp53= |