Linked Data
ClinVar Variation Id:
13577
ClinVar RCV Id:
RCV000014545
dbSNP Id:
rs121918030
gnomAD v4:
6-160716680-G-A
COSMIC:
COSM246667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160716680G>A , CM000668.2:g.160716680G>A | GRCh38 |
| NC_000006.11:g.161137712G>A , CM000668.1:g.161137712G>A | GRCh37 |
| NC_000006.10:g.161057702G>A | NCBI36 |
| NG_016200.1:g.19488G>A , LRG_571:g.19488G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297289.9:c.50-5728G>A | ENSP00000516619.1:n.50-5728G>A | |
| ENST00000418964.2:c.755G>A | ENSP00000389424.2:p.Arg252His | |
| ENST00000706906.1:c.704G>A | ENSP00000516618.1:p.Arg235His | |
| ENST00000308192.14:c.704G>A MANE Select | ENSP00000308938.9:p.Arg235His | |
| ENST00000297289.8:n.95-5728G>A | ||
| ENST00000308192.13:c.704G>A | ENSP00000308938.9:p.Arg235His | |
| NM_000301.3:c.704G>A , LRG_571t1:c.704G>A | NP_000292.1:p.Arg235His | |
| NM_000301.4:c.704G>A | NP_000292.1:p.Arg235His | |
| NM_000301.5:c.704G>A MANE Select | NP_000292.1:p.Arg235His |