Linked Data
ClinVar Variation Id:
2923691
ClinVar RCV Id:
RCV003783249
dbSNP Id:
rs751620229
ExAC:
12:57881903 G / A
gnomAD v2:
12-57881903-G-A
gnomAD v3:
12-57488120-G-A
gnomAD v4:
12-57488120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57488120G>A , CM000674.2:g.57488120G>A | GRCh38 |
| NC_000012.11:g.57881903G>A , CM000674.1:g.57881903G>A | GRCh37 |
| NC_000012.10:g.56168170G>A | NCBI36 |
| NG_034077.1:g.5168G>A | |
| NG_023205.2:g.5695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.30G>A (MARS1) MANE Select | ENSP00000262027.5:p.Pro10= | |
| ENST00000393797.7:c.-204+492C>T (ARHGAP9) | ENSP00000377386.3:n.-204+492C>T | |
| ENST00000550288.6:c.-274+492C>T (ARHGAP9) | ENSP00000473445.2:n.-274+492C>T | |
| ENST00000262027.9:c.30G>A (MARS1) | ENSP00000262027.5:p.Pro10= | |
| ENST00000393797.6:c.10+492C>T (ARHGAP9) | ENSP00000377386.2:n.10+492C>T | |
| ENST00000447721.6:n.53G>A (MARS1) | ||
| ENST00000537638.6:c.30G>A (MARS1) | ENSP00000446168.2:p.Pro10= | |
| ENST00000545888.6:c.30G>A (MARS1) | ENSP00000439307.2:p.Pro10= | |
| ENST00000546481.1:n.59G>A (MARS1) | ||
| ENST00000547062.5:n.53G>A (MARS1) | ||
| ENST00000547501.5:c.30G>A (MARS1) | ENSP00000447145.1:p.Pro10= | |
| ENST00000548674.5:n.79+18G>A (MARS1) | ||
| ENST00000548714.5:n.53G>A (MARS1) | ||
| ENST00000549074.5:c.30G>A (MARS1) | ENSP00000447258.1:p.Pro10= | |
| ENST00000550288.5:c.-37+492C>T (ARHGAP9) | ENSP00000473445.1:n.-37+492C>T | |
| ENST00000550449.5:n.65G>A (MARS1) | ||
| ENST00000551431.5:c.30G>A (MARS1) | ENSP00000446729.1:p.Pro10= | |
| ENST00000551842.5:n.53G>A (MARS1) | ||
| ENST00000551892.1:c.30G>A (MARS1) | ENSP00000450018.1:p.Pro10= | |
| ENST00000552007.5:c.30G>A (MARS1) | ENSP00000448576.1:p.Pro10= | |
| ENST00000553162.5:n.53G>A (MARS1) | ||
| ENST00000628866.2:c.30G>A (MARS1) | ENSP00000486738.1:p.Pro10= | |
| ENST00000630571.2:c.30G>A (MARS1) | ENSP00000485951.1:p.Pro10= | |
| ENST00000630803.1:c.30G>A (MARS1) | ENSP00000486356.1:p.Pro10= | |
| NM_004990.3:c.30G>A (MARS1) | NP_004981.2:p.Pro10= | |
| XM_006719398.2:c.-597G>A (MARS1) | XP_006719461.1:n.-597G>A | |
| XM_011538353.1:c.30G>A (MARS1) | XP_011536655.1:p.Pro10= | |
| NM_001319850.1:c.10+492C>T (ARHGAP9) | NP_001306779.1:n.10+492C>T | |
| XM_006719398.4:c.-597G>A (MARS1) | XP_006719461.1:n.-597G>A | |
| XR_001748704.2:n.53G>A (MARS1) | ||
| XR_002957327.1:n.53G>A (MARS1) | ||
| NM_001319850.2:c.-204+492C>T (ARHGAP9) | NP_001306779.2:n.-204+492C>T | |
| NM_004990.4:c.30G>A (MARS1) MANE Select | NP_004981.2:p.Pro10= |