Linked Data
ClinVar Variation Id:
161203
ClinVar RCV Id:
RCV000148356
dbSNP Id:
rs141764916
ExAC:
12:52309928 G / A
gnomAD v2:
12-52309928-G-A
gnomAD v3:
12-51916144-G-A
gnomAD v4:
12-51916144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916144G>A , CM000674.2:g.51916144G>A | GRCh38 |
| NC_000012.11:g.52309928G>A , CM000674.1:g.52309928G>A | GRCh37 |
| NC_000012.10:g.50596195G>A | NCBI36 |
| NG_009549.1:g.13727G>A , LRG_543:g.13727G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.887G>A | ENSP00000446724.2:p.Arg296His | |
| ENST00000551576.6:c.1157G>A | ENSP00000455848.2:p.Arg386His | |
| ENST00000552678.2:c.1157G>A | ENSP00000457394.2:p.Arg386His | |
| ENST00000388922.9:c.1157G>A MANE Select | ENSP00000373574.4:p.Arg386His | |
| ENST00000388922.8:c.1157G>A | ENSP00000373574.4:p.Arg386His | |
| ENST00000419526.6:c.635G>A | ENSP00000392492.2:p.Arg212His | |
| ENST00000547632.1:n.432G>A | ||
| ENST00000550683.5:c.1199G>A | ENSP00000447884.1:p.Arg400His | |
| ENST00000552678.1:c.162G>A | ||
| NM_000020.2:c.1157G>A , LRG_543t1:c.1157G>A | NP_000011.2:p.Arg386His | |
| NM_001077401.1:c.1157G>A | NP_001070869.1:p.Arg386His | |
| XM_005269235.2:c.1157G>A | XP_005269292.1:p.Arg386His | |
| XM_011539008.1:c.887G>A | XP_011537310.1:p.Arg296His | |
| XM_024449279.1:c.368G>A | XP_024305047.1:p.Arg123His | |
| NM_000020.3:c.1157G>A MANE Select | NP_000011.2:p.Arg386His | |
| NM_001077401.2:c.1157G>A | NP_001070869.1:p.Arg386His |