Linked Data
ClinVar Variation Id:
339677
ClinVar RCV Id:
RCV000301463
dbSNP Id:
rs17855142
ExAC:
21:33678976 G / T
gnomAD v2:
21-33678976-G-T
gnomAD v3:
21-32306665-G-T
gnomAD v4:
21-32306665-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32306665G>T , CM000683.2:g.32306665G>T | GRCh38 |
| NC_000021.8:g.33678976G>T , CM000683.1:g.33678976G>T | GRCh37 |
| NC_000021.7:g.32600847G>T | NCBI36 |
| NG_016234.1:g.19853G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303645.10:c.132G>T (MRAP) MANE Select | ENSP00000306697.5:p.Val44= | |
| ENST00000303645.9:c.132G>T (MRAP) | ENSP00000306697.5:p.Val44= | |
| ENST00000339944.4:c.132G>T (MRAP) | ENSP00000343661.4:p.Val44= | |
| ENST00000399784.6:c.132G>T (MRAP) | ENSP00000382684.2:p.Val44= | |
| ENST00000497833.1:n.203G>T (MRAP) | ||
| NM_001285394.1:c.-46G>T (MRAP) | NP_001272323.1:n.-46G>T | |
| NM_178817.3:c.132G>T (MRAP) | NP_848932.1:p.Val44= | |
| NM_206898.1:c.132G>T (MRAP) | NP_996781.1:p.Val44= | |
| XM_006724028.2:c.132G>T (MRAP) | XP_006724091.1:p.Val44= | |
| XR_937664.1:n.798C>A (MRAP-AS1) | ||
| XM_006724028.3:c.132G>T (MRAP) | XP_006724091.1:p.Val44= | |
| XM_017028407.1:c.132G>T (MRAP) | XP_016883896.1:p.Val44= | |
| NM_001285394.2:c.-46G>T (MRAP) | NP_001272323.1:n.-46G>T | |
| NM_178817.4:c.132G>T (MRAP) | NP_848932.1:p.Val44= | |
| NM_001379228.1:c.132G>T (MRAP) MANE Select | NP_001366157.1:p.Val44= | |
| NM_206898.2:c.132G>T (MRAP) | NP_996781.1:p.Val44= |