Linked Data
ClinVar Variation Id:
733472
ClinVar RCV Id:
RCV001468430
dbSNP Id:
rs770662324
ExAC:
20:44684791 C / T
gnomAD v2:
20-44684791-C-T
gnomAD v3:
20-46056152-C-T
gnomAD v4:
20-46056152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056152C>T , CM000682.2:g.46056152C>T | GRCh38 |
| NC_000020.10:g.44684791C>T , CM000682.1:g.44684791C>T | GRCh37 |
| NC_000020.9:g.44118198C>T | NCBI36 |
| NG_046341.1:g.39463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2790C>T MANE Select | ENSP00000243964.4:p.Ile930= | |
| ENST00000243964.6:c.2790C>T | ENSP00000243964.3:p.Ile930= | |
| ENST00000454036.6:c.2859C>T | ENSP00000387694.1:p.Ile953= | |
| ENST00000616201.4:c.1298-2504C>T | ENSP00000484585.1:n.1298-2504C>T | |
| ENST00000616202.4:c.613-2329C>T | ENSP00000478369.1:n.613-2329C>T | |
| ENST00000616933.4:c.*2108C>T | ENSP00000477569.1:n.*2108C>T | |
| ENST00000626937.2:c.510-3447C>T | ENSP00000485953.1:n.510-3447C>T | |
| ENST00000628413.1:n.306C>T | ||
| NM_001134771.1:c.2859C>T | NP_001128243.1:p.Ile953= | |
| NM_020708.4:c.2790C>T | NP_065759.1:p.Ile930= | |
| XM_017027981.1:c.2859C>T | XP_016883470.1:p.Ile953= | |
| NM_001134771.2:c.2859C>T | NP_001128243.1:p.Ile953= | |
| NM_020708.5:c.2790C>T MANE Select | NP_065759.1:p.Ile930= |