Linked Data
ClinVar Variation Id:
933333
ClinVar RCV Id:
RCV001201522
dbSNP Id:
rs773474721
ExAC:
12:57881969 TG / T
gnomAD v2:
12-57881969-TG-T
gnomAD v4:
12-57488186-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57488187del , CM000674.2:g.57488187del | GRCh38 |
| NC_000012.11:g.57881970del , CM000674.1:g.57881970del | GRCh37 |
| NC_000012.10:g.56168237del | NCBI36 |
| NG_034077.1:g.5235del | |
| NG_023205.2:g.5628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.97del (MARS1) MANE Select | ENSP00000262027.5:p.Val33Ter | |
| ENST00000393797.7:c.-204+425del (ARHGAP9) | ENSP00000377386.3:n.-204+425del | |
| ENST00000550288.6:c.-274+425del (ARHGAP9) | ENSP00000473445.2:n.-274+425del | |
| ENST00000262027.9:c.97del (MARS1) | ENSP00000262027.5:p.Val33Ter | |
| ENST00000393797.6:c.10+425del (ARHGAP9) | ENSP00000377386.2:n.10+425del | |
| ENST00000447721.6:n.120del (MARS1) | ||
| ENST00000537638.6:c.97del (MARS1) | ENSP00000446168.2:p.Val33Ter | |
| ENST00000545888.6:c.97del (MARS1) | ENSP00000439307.2:p.Val33Ter | |
| ENST00000546481.1:n.126del (MARS1) | ||
| ENST00000547062.5:n.120del (MARS1) | ||
| ENST00000547501.5:c.97del (MARS1) | ENSP00000447145.1:p.Val33Ter | |
| ENST00000548674.5:n.79+85del (MARS1) | ||
| ENST00000548714.5:n.120del (MARS1) | ||
| ENST00000549074.5:c.97del (MARS1) | ENSP00000447258.1:p.Val33Ter | |
| ENST00000550288.5:c.-37+425del (ARHGAP9) | ENSP00000473445.1:n.-37+425del | |
| ENST00000550449.5:n.132del (MARS1) | ||
| ENST00000551431.5:c.97del (MARS1) | ENSP00000446729.1:p.Val33Ter | |
| ENST00000551842.5:n.120del (MARS1) | ||
| ENST00000551892.1:c.97del (MARS1) | ENSP00000450018.1:p.Val33Ter | |
| ENST00000552007.5:c.97del (MARS1) | ENSP00000448576.1:p.Val33Ter | |
| ENST00000553162.5:n.120del (MARS1) | ||
| ENST00000628866.2:c.97del (MARS1) | ENSP00000486738.1:p.Val33Ter | |
| ENST00000630571.2:c.97del (MARS1) | ENSP00000485951.1:p.Val33Ter | |
| ENST00000630803.1:c.97del (MARS1) | ENSP00000486356.1:p.Val33Ter | |
| NM_004990.3:c.97del (MARS1) | NP_004981.2:p.Val33Ter | |
| XM_006719398.2:c.-530del (MARS1) | XP_006719461.1:n.-530del | |
| XM_011538353.1:c.97del (MARS1) | XP_011536655.1:p.Val33Ter | |
| NM_001319850.1:c.10+425del (ARHGAP9) | NP_001306779.1:n.10+425del | |
| XM_006719398.4:c.-530del (MARS1) | XP_006719461.1:n.-530del | |
| XR_001748704.2:n.120del (MARS1) | ||
| XR_002957327.1:n.120del (MARS1) | ||
| NM_001319850.2:c.-204+425del (ARHGAP9) | NP_001306779.2:n.-204+425del | |
| NM_004990.4:c.97del (MARS1) MANE Select | NP_004981.2:p.Val33Ter |