Linked Data
ClinVar Variation Id:
372191
dbSNP Id:
rs141179774
ExAC:
12:94243956 G / A
gnomAD v2:
12-94243956-G-A
gnomAD v3:
12-93850180-G-A
gnomAD v4:
12-93850180-G-A
COSMIC:
COSM3968496
PubMed:
PMID:27773430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93850180G>A , CM000674.2:g.93850180G>A | GRCh38 |
| NC_000012.11:g.94243956G>A , CM000674.1:g.94243956G>A | GRCh37 |
| NC_000012.10:g.92768087G>A | NCBI36 |
| NG_032159.1:g.177806G>A | |
| NG_032159.2:g.177806G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332896.8:c.509G>A MANE Select | ENSP00000327647.3:p.Arg170His | |
| ENST00000332896.7:c.509G>A | ENSP00000327647.3:p.Arg170His | |
| ENST00000542893.2:c.509G>A | ENSP00000439068.2:p.Arg170His | |
| ENST00000548330.1:n.894G>A | ||
| ENST00000548483.5:c.299-43870G>A | ENSP00000448685.1:n.299-43870G>A | |
| ENST00000550030.1:n.309G>A | ||
| ENST00000551065.5:c.299-9139G>A | ENSP00000448425.1:n.299-9139G>A | |
| ENST00000609189.1:n.285G>A | ||
| NM_003805.3:c.509G>A | NP_003796.1:p.Arg170His | |
| XM_005269211.3:c.299-43870G>A | XP_005269268.1:n.299-43870G>A | |
| NM_001320099.1:c.509G>A | NP_001307028.1:p.Arg170His | |
| NM_001320100.1:c.299-43870G>A | NP_001307029.1:n.299-43870G>A | |
| NM_003805.4:c.509G>A | NP_003796.1:p.Arg170His | |
| NR_135147.1:n.407-9139G>A | ||
| XM_017020144.1:c.299-9139G>A | XP_016875633.1:n.299-9139G>A | |
| XR_001748910.1:n.430-9139G>A | ||
| NM_003805.5:c.509G>A MANE Select | NP_003796.1:p.Arg170His | |
| NM_001320099.2:c.509G>A | NP_001307028.1:p.Arg170His | |
| NM_001320100.2:c.299-43870G>A | NP_001307029.1:n.299-43870G>A | |
| NR_135147.2:n.403-9139G>A |