Linked Data
ClinVar Variation Id:
424681
ClinVar RCV Id:
RCV000516038
dbSNP Id:
rs201535531
ExAC:
12:57881856 C / T
gnomAD v2:
12-57881856-C-T
gnomAD v3:
12-57488073-C-T
gnomAD v4:
12-57488073-C-T
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57488073C>T , CM000674.2:g.57488073C>T | GRCh38 |
| NC_000012.11:g.57881856C>T , CM000674.1:g.57881856C>T | GRCh37 |
| NC_000012.10:g.56168123C>T | NCBI36 |
| NG_034077.1:g.5121C>T | |
| NG_023205.2:g.5742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.-18C>T (MARS1) MANE Select | ENSP00000262027.5:n.-18C>T | |
| ENST00000393797.7:c.-204+539G>A (ARHGAP9) | ENSP00000377386.3:n.-204+539G>A | |
| ENST00000550288.6:c.-274+539G>A (ARHGAP9) | ENSP00000473445.2:n.-274+539G>A | |
| ENST00000262027.9:c.-18C>T (MARS1) | ENSP00000262027.5:n.-18C>T | |
| ENST00000393797.6:c.10+539G>A (ARHGAP9) | ENSP00000377386.2:n.10+539G>A | |
| ENST00000447721.6:n.6C>T (MARS1) | ||
| ENST00000537638.6:c.-18C>T (MARS1) | ENSP00000446168.2:n.-18C>T | |
| ENST00000545888.6:c.-18C>T (MARS1) | ENSP00000439307.2:n.-18C>T | |
| ENST00000546481.1:n.12C>T (MARS1) | ||
| ENST00000547062.5:n.6C>T (MARS1) | ||
| ENST00000547501.5:c.-18C>T (MARS1) | ENSP00000447145.1:n.-18C>T | |
| ENST00000548674.5:n.50C>T (MARS1) | ||
| ENST00000548714.5:n.6C>T (MARS1) | ||
| ENST00000549074.5:c.-18C>T (MARS1) | ENSP00000447258.1:n.-18C>T | |
| ENST00000550288.5:c.-37+539G>A (ARHGAP9) | ENSP00000473445.1:n.-37+539G>A | |
| ENST00000550449.5:n.18C>T (MARS1) | ||
| ENST00000551431.5:c.-18C>T (MARS1) | ENSP00000446729.1:n.-18C>T | |
| ENST00000551842.5:n.6C>T (MARS1) | ||
| ENST00000553162.5:n.6C>T (MARS1) | ||
| ENST00000628866.2:c.-18C>T (MARS1) | ENSP00000486738.1:n.-18C>T | |
| NM_004990.3:c.-18C>T (MARS1) | NP_004981.2:n.-18C>T | |
| XM_006719398.2:c.-644C>T (MARS1) | XP_006719461.1:n.-644C>T | |
| XM_011538353.1:c.-18C>T (MARS1) | XP_011536655.1:n.-18C>T | |
| NM_001319850.1:c.10+539G>A (ARHGAP9) | NP_001306779.1:n.10+539G>A | |
| XM_006719398.4:c.-644C>T (MARS1) | XP_006719461.1:n.-644C>T | |
| XR_001748704.2:n.6C>T (MARS1) | ||
| XR_002957327.1:n.6C>T (MARS1) | ||
| NM_001319850.2:c.-204+539G>A (ARHGAP9) | NP_001306779.2:n.-204+539G>A | |
| NM_004990.4:c.-18C>T (MARS1) MANE Select | NP_004981.2:n.-18C>T |