Linked Data
ClinVar Variation Id:
472851
dbSNP Id:
rs370169829
ExAC:
14:105180723 G / A
gnomAD v2:
14-105180723-G-A
gnomAD v3:
14-104714386-G-A
gnomAD v4:
14-104714386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714386G>A , CM000676.2:g.104714386G>A | GRCh38 |
| NC_000014.8:g.105180723G>A , CM000676.1:g.105180723G>A | GRCh37 |
| NC_000014.7:g.104251768G>A | NCBI36 |
| NG_027684.1:g.29781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3224G>A MANE Select | ENSP00000376410.4:p.Arg1075His | |
| ENST00000617571.5:c.3220G>A | ENSP00000483829.2:n.3220G>A | |
| ENST00000674520.1:c.3219G>A | ENSP00000502593.1:n.3219G>A | |
| ENST00000674631.1:c.1262G>A | ENSP00000502830.1:p.Arg421His | |
| ENST00000674662.1:c.3228G>A | ENSP00000501895.1:n.3228G>A | |
| ENST00000674757.1:c.3229G>A | ENSP00000502202.1:n.3229G>A | |
| ENST00000674822.1:c.3108G>A | ENSP00000501552.1:n.3108G>A | |
| ENST00000674846.1:c.3219G>A | ENSP00000502431.1:n.3219G>A | |
| ENST00000674857.1:c.3213G>A | ENSP00000501687.1:n.3213G>A | |
| ENST00000674960.1:c.3082G>A | ENSP00000501841.1:n.3082G>A | |
| ENST00000674991.1:c.2474G>A | ENSP00000502004.1:p.Arg825His | |
| ENST00000675207.1:c.3320G>A | ENSP00000502644.1:p.Arg1107His | |
| ENST00000675329.1:c.3200G>A | ENSP00000502287.1:p.Arg1067His | |
| ENST00000675481.1:c.3224G>A | ENSP00000502723.1:p.Arg1075His | |
| ENST00000675583.1:c.3153G>A | ENSP00000501740.1:n.3153G>A | |
| ENST00000675603.1:n.464G>A | ||
| ENST00000675638.1:c.3143G>A | ENSP00000501647.1:p.Arg1048His | |
| ENST00000675724.1:c.3162G>A | ENSP00000502576.1:n.3162G>A | |
| ENST00000675771.1:c.2487G>A | ENSP00000502104.1:n.2487G>A | |
| ENST00000675797.1:c.2629G>A | ENSP00000502023.1:n.2629G>A | |
| ENST00000675809.1:c.3279G>A | ENSP00000502587.1:n.3279G>A | |
| ENST00000675930.1:c.3224G>A | ENSP00000502456.1:p.Arg1075His | |
| ENST00000675980.1:c.3242G>A | ENSP00000502520.1:p.Arg1081His | |
| ENST00000676016.1:c.3123G>A | ENSP00000502412.1:n.3123G>A | |
| ENST00000676366.1:c.3224G>A | ENSP00000501605.1:p.Arg1075His | |
| ENST00000252527.8:c.1628G>A | ENSP00000252527.8:p.Arg543His | |
| ENST00000330634.11:c.3224G>A | ENSP00000376406.3:p.Arg1075His | |
| ENST00000392634.8:c.3224G>A | ENSP00000376410.4:p.Arg1075His | |
| ENST00000617571.4:c.-910G>A | ENSP00000483829.1:n.-910G>A | |
| NM_001031714.3:c.3224G>A | NP_001026884.3:p.Arg1075His | |
| NM_022489.3:c.3224G>A | NP_071934.3:p.Arg1075His | |
| XM_005268004.3:c.3320G>A | XP_005268061.1:p.Arg1107His | |
| XM_005268005.3:c.3320G>A | XP_005268062.1:p.Arg1107His | |
| XR_943507.1:n.3449G>A | ||
| XM_005268004.4:c.3320G>A | XP_005268061.1:p.Arg1107His | |
| XM_005268005.4:c.3320G>A | XP_005268062.1:p.Arg1107His | |
| XM_017021595.1:c.3320G>A | XP_016877084.1:p.Arg1107His | |
| NM_001031714.4:c.3224G>A | NP_001026884.3:p.Arg1075His | |
| NM_022489.4:c.3224G>A MANE Select | NP_071934.3:p.Arg1075His |