Linked Data
ClinVar Variation Id:
18122
ClinVar RCV Id:
RCV000019750
dbSNP Id:
rs121912697
ExAC:
2:44528215 G / A
gnomAD v2:
2-44528215-G-A
gnomAD v3:
2-44301076-G-A
gnomAD v4:
2-44301076-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44301076G>A , CM000664.2:g.44301076G>A | GRCh38 |
| NC_000002.11:g.44528215G>A , CM000664.1:g.44528215G>A | GRCh37 |
| NC_000002.10:g.44381719G>A | NCBI36 |
| NG_008233.1:g.30619G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260649.11:c.1085G>A MANE Select | ENSP00000260649.6:p.Arg362His | |
| ENST00000649044.1:c.*1096G>A | ENSP00000497083.1:n.*1096G>A | |
| ENST00000260649.10:c.1085G>A | ENSP00000260649.6:p.Arg362His | |
| ENST00000409229.7:c.1085G>A | ENSP00000386620.3:p.Arg362His | |
| ENST00000409294.5:c.-5+986G>A | ENSP00000386852.1:n.-5+986G>A | |
| ENST00000409380.5:c.251G>A | ENSP00000386709.1:p.Arg84His | |
| ENST00000409387.5:c.1085G>A | ENSP00000387308.1:p.Arg362His | |
| ENST00000409741.5:c.1085G>A | ENSP00000386954.1:p.Arg362His | |
| ENST00000410056.7:c.1085G>A | ENSP00000387337.3:p.Arg362His | |
| ENST00000427285.1:c.419G>A | ENSP00000391642.1:p.Arg140His | |
| ENST00000611973.4:c.1085G>A | ENSP00000483618.1:p.Arg362His | |
| NM_000341.3:c.1085G>A | NP_000332.2:p.Arg362His | |
| XM_011533047.1:c.1085G>A | XP_011531349.1:p.Arg362His | |
| XM_011533047.3:c.1085G>A | XP_011531349.1:p.Arg362His | |
| NM_000341.4:c.1085G>A MANE Select | NP_000332.2:p.Arg362His |