Linked Data
ClinVar Variation Id:
127272
ClinVar RCV Id:
RCV000157617
dbSNP Id:
rs730880016
gnomAD v4:
15-57273122-G-A
PubMed:
PMID:24736737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.57273122G>A , CM000677.2:g.57273122G>A | GRCh38 |
| NC_000015.9:g.57565320G>A , CM000677.1:g.57565320G>A | GRCh37 |
| NC_000015.8:g.55352612G>A | NCBI36 |
| NG_033851.1:g.359488G>A | |
| NG_033851.2:g.360033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333725.10:c.1838G>A MANE Select | ENSP00000331057.6:p.Arg613His | |
| ENST00000267811.9:c.1766G>A | ENSP00000267811.5:p.Arg589His | |
| ENST00000333725.9:c.1838G>A | ENSP00000331057.5:p.Arg613His | |
| ENST00000343827.7:c.1256G>A | ENSP00000342459.3:p.Arg419His | |
| ENST00000438423.6:c.1838G>A | ENSP00000388940.2:p.Arg613His | |
| ENST00000537840.5:c.1058G>A | ENSP00000444696.1:p.Arg353His | |
| ENST00000543579.5:c.1328G>A | ENSP00000440017.1:p.Arg443His | |
| ENST00000557843.5:c.1766G>A | ENSP00000453737.1:p.Arg589His | |
| ENST00000559609.5:c.1826G>A | ENSP00000453876.1:p.Arg609His | |
| ENST00000559703.1:c.737G>A | ENSP00000454102.1:p.Arg246His | |
| ENST00000559710.5:c.668G>A | ENSP00000453264.1:p.Arg223His | |
| ENST00000560190.5:n.495G>A | ||
| ENST00000561420.5:n.761G>A | ||
| ENST00000561449.1:n.872G>A | ||
| NM_001306219.1:c.1328G>A | NP_001293148.1:p.Arg443His | |
| NM_001306220.1:c.1058G>A | NP_001293149.1:p.Arg353His | |
| NM_003205.3:c.1766G>A | NP_003196.1:p.Arg589His | |
| NM_207036.1:c.1838G>A | NP_996919.1:p.Arg613His | |
| NM_207037.1:c.1838G>A | NP_996920.1:p.Arg613His | |
| NM_207038.1:c.1766G>A | NP_996921.1:p.Arg589His | |
| NM_207040.1:c.1256G>A | NP_996923.1:p.Arg419His | |
| XM_005254613.3:c.1664G>A | XP_005254670.1:p.Arg555His | |
| XM_011521959.1:c.1874G>A | XP_011520261.1:p.Arg625His | |
| XM_011521960.1:c.1874G>A | XP_011520262.1:p.Arg625His | |
| XM_011521961.1:c.1871G>A | XP_011520263.1:p.Arg624His | |
| XM_011521962.1:c.1802G>A | XP_011520264.1:p.Arg601His | |
| XM_011521963.1:c.1799G>A | XP_011520265.1:p.Arg600His | |
| XM_011521965.1:c.1190G>A | XP_011520267.1:p.Arg397His | |
| XM_011521966.1:c.1130G>A | XP_011520268.1:p.Arg377His | |
| XM_011521967.1:c.1118G>A | XP_011520269.1:p.Arg373His | |
| XM_011521969.1:c.1253G>A | XP_011520271.1:p.Arg418His | |
| NM_001306219.2:c.1328G>A | NP_001293148.1:p.Arg443His | |
| NM_001306220.2:c.1058G>A | NP_001293149.1:p.Arg353His | |
| NM_001322151.1:c.1838G>A | NP_001309080.1:p.Arg613His | |
| NM_001322152.1:c.1835G>A | NP_001309081.1:p.Arg612His | |
| NM_001322154.1:c.1181G>A | NP_001309083.1:p.Arg394His | |
| NM_001322156.1:c.1664G>A | NP_001309085.1:p.Arg555His | |
| NM_001322157.1:c.1766G>A | NP_001309086.1:p.Arg589His | |
| NM_001322158.1:c.1592G>A | NP_001309087.1:p.Arg531His | |
| NM_001322159.1:c.1838G>A | NP_001309088.1:p.Arg613His | |
| NM_001322161.1:c.1835G>A | NP_001309090.1:p.Arg612His | |
| NM_001322162.1:c.1838G>A | NP_001309091.1:p.Arg613His | |
| NM_001322164.1:c.1802G>A | NP_001309093.1:p.Arg601His | |
| NM_001322165.1:c.1766G>A | NP_001309094.1:p.Arg589His | |
| XM_011521959.3:c.1874G>A | XP_011520261.1:p.Arg625His | |
| XM_011521960.3:c.1874G>A | XP_011520262.1:p.Arg625His | |
| XM_011521961.3:c.1871G>A | XP_011520263.1:p.Arg624His | |
| XM_011521962.3:c.1802G>A | XP_011520264.1:p.Arg601His | |
| XM_011521963.3:c.1799G>A | XP_011520265.1:p.Arg600His | |
| XM_011521965.2:c.1190G>A | XP_011520267.1:p.Arg397His | |
| XM_011521966.2:c.1130G>A | XP_011520268.1:p.Arg377His | |
| XM_011521967.2:c.1118G>A | XP_011520269.1:p.Arg373His | |
| XM_017022520.2:c.1763G>A | XP_016878009.1:p.Arg588His | |
| NM_001306219.3:c.1328G>A | NP_001293148.1:p.Arg443His | |
| NM_001306220.3:c.1058G>A | NP_001293149.1:p.Arg353His | |
| NM_001322152.2:c.1835G>A | NP_001309081.1:p.Arg612His | |
| NM_001322154.2:c.1181G>A | NP_001309083.1:p.Arg394His | |
| NM_001322156.2:c.1664G>A | NP_001309085.1:p.Arg555His | |
| NM_001322157.2:c.1766G>A | NP_001309086.1:p.Arg589His | |
| NM_001322158.2:c.1592G>A | NP_001309087.1:p.Arg531His | |
| NM_001322159.2:c.1838G>A | NP_001309088.1:p.Arg613His | |
| NM_001322161.2:c.1835G>A | NP_001309090.1:p.Arg612His | |
| NM_001322162.2:c.1838G>A | NP_001309091.1:p.Arg613His | |
| NM_001322164.2:c.1802G>A | NP_001309093.1:p.Arg601His | |
| NM_001322165.2:c.1766G>A | NP_001309094.1:p.Arg589His | |
| NM_003205.4:c.1766G>A | NP_003196.1:p.Arg589His | |
| NM_207036.2:c.1838G>A | NP_996919.1:p.Arg613His | |
| NM_207037.2:c.1838G>A MANE Select | NP_996920.1:p.Arg613His | |
| NM_207038.2:c.1766G>A | NP_996921.1:p.Arg589His | |
| NM_207040.2:c.1256G>A | NP_996923.1:p.Arg419His | |
| NM_001322151.2:c.1838G>A | NP_001309080.1:p.Arg613His | |
| NM_001322157.3:c.1766G>A | NP_001309086.1:p.Arg589His | |
| NM_001322159.3:c.1838G>A | NP_001309088.1:p.Arg613His |