UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
157523
ClinVar RCV Id:
RCV000144865
dbSNP Id:
rs587781247
ExAC:
17:75478370 G / A
gnomAD v2:
17-75478370-G-A
gnomAD v3:
17-77482288-G-A
gnomAD v4:
17-77482288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77482288G>A , CM000679.2:g.77482288G>A | GRCh38 |
| NC_000017.10:g.75478370G>A , CM000679.1:g.75478370G>A | GRCh37 |
| NC_000017.9:g.72989965G>A | NCBI36 |
| NG_011683.1:g.205879G>A | |
| NG_011683.2:g.205879G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329047.13:c.812G>A MANE Plus Clinical | ENSP00000329161.8:p.Arg271His | |
| ENST00000427177.6:c.866G>A MANE Select | ENSP00000391249.1:p.Arg289His | |
| ENST00000588690.6:c.374G>A | ENSP00000468668.1:p.Arg125His | |
| ENST00000589250.6:n.170G>A | ||
| ENST00000590294.6:n.915G>A | ||
| ENST00000592481.6:c.113G>A | ENSP00000502589.1:p.Arg38His | |
| ENST00000329047.12:c.812G>A | ENSP00000329161.8:p.Arg271His | |
| ENST00000423034.6:c.845G>A | ENSP00000405877.1:p.Arg282His | |
| ENST00000427177.5:c.866G>A | ENSP00000391249.1:p.Arg289His | |
| ENST00000427180.5:c.530G>A | ENSP00000415624.1:p.Arg177His | |
| ENST00000427674.6:c.374G>A | ENSP00000403194.1:p.Arg125His | |
| ENST00000431235.6:c.374G>A | ENSP00000406987.2:p.Arg125His | |
| ENST00000449803.6:c.374G>A | ENSP00000400181.2:p.Arg125His | |
| ENST00000541152.6:c.113G>A | ENSP00000438089.2:p.Arg38His | |
| ENST00000585638.1:c.113G>A | ENSP00000466115.1:p.Arg38His | |
| ENST00000585929.5:c.113G>A | ENSP00000467780.1:p.Arg38His | |
| ENST00000585930.5:c.194G>A | ENSP00000468120.1:p.Arg65His | |
| ENST00000586128.5:c.113G>A | ENSP00000467792.1:p.Arg38His | |
| ENST00000586433.5:c.113G>A | ENSP00000468110.1:p.Arg38His | |
| ENST00000586521.5:c.113G>A | ENSP00000466170.1:p.Arg38His | |
| ENST00000588575.1:c.196-5194G>A | ENSP00000468090.1:n.196-5194G>A | |
| ENST00000588690.5:c.374G>A | ENSP00000468668.1:p.Arg125His | |
| ENST00000588958.6:c.113G>A | ENSP00000464832.1:p.Arg38His | |
| ENST00000589920.5:c.113G>A | ENSP00000466532.1:p.Arg38His | |
| ENST00000590059.5:c.317G>A | ENSP00000466164.1:p.Arg106His | |
| ENST00000590294.5:c.812G>A | ENSP00000465464.1:p.Arg271His | |
| ENST00000590917.5:c.113G>A | ENSP00000467619.1:p.Arg38His | |
| ENST00000590938.5:c.113G>A | ENSP00000466201.1:p.Arg38His | |
| ENST00000591020.5:c.113G>A | ENSP00000467908.1:p.Arg38His | |
| ENST00000591088.5:c.113G>A | ENSP00000466247.1:p.Arg38His | |
| ENST00000591198.5:c.809G>A | ENSP00000468406.1:p.Arg270His | |
| ENST00000591472.6:c.113G>A | ENSP00000468410.2:p.Arg38His | |
| ENST00000591704.5:c.113G>A | ENSP00000465415.1:p.Arg38His | |
| ENST00000592420.1:c.293G>A | ENSP00000467051.1:p.Arg98His | |
| ENST00000592481.5:n.430G>A | ||
| ENST00000592951.5:c.113G>A | ENSP00000466648.1:p.Arg38His | |
| ENST00000593189.6:c.113G>A | ENSP00000465904.1:p.Arg38His | |
| NM_001113491.1:c.866G>A | NP_001106963.1:p.Arg289His | |
| NM_001113492.1:c.374G>A | NP_001106964.1:p.Arg125His | |
| NM_001113493.1:c.845G>A | NP_001106965.1:p.Arg282His | |
| NM_001113494.1:c.374G>A | NP_001106966.1:p.Arg125His | |
| NM_001113495.1:c.530G>A | NP_001106967.1:p.Arg177His | |
| NM_001113496.1:c.113G>A | NP_001106968.1:p.Arg38His | |
| NM_001293695.1:c.809G>A | NP_001280624.1:p.Arg270His | |
| NM_001293696.1:c.194G>A | NP_001280625.1:p.Arg65His | |
| NM_001293697.1:c.113G>A | NP_001280626.1:p.Arg38His | |
| NM_001293698.1:c.113G>A | NP_001280627.1:p.Arg38His | |
| NM_006640.4:c.812G>A | NP_006631.2:p.Arg271His | |
| XM_005256962.1:c.113G>A | XP_005257019.1:p.Arg38His | |
| XM_006721643.2:c.374G>A | XP_006721706.1:p.Arg125His | |
| XM_006721644.1:c.113G>A | XP_006721707.1:p.Arg38His | |
| XM_011524204.1:c.959G>A | XP_011522506.1:p.Arg320His | |
| XM_011524205.1:c.956G>A | XP_011522507.1:p.Arg319His | |
| XM_011524206.1:c.821G>A | XP_011522508.1:p.Arg274His | |
| XM_011524207.1:c.374G>A | XP_011522509.1:p.Arg125His | |
| XM_011524208.1:c.113G>A | XP_011522510.1:p.Arg38His | |
| XM_011524209.1:c.113G>A | XP_011522511.1:p.Arg38His | |
| NM_001113491.2:c.866G>A MANE Select | NP_001106963.1:p.Arg289His | |
| NM_001113493.2:c.845G>A | NP_001106965.1:p.Arg282His | |
| NM_001113496.2:c.113G>A | NP_001106968.1:p.Arg38His | |
| NM_001293695.2:c.809G>A | NP_001280624.1:p.Arg270His | |
| NM_001293696.2:c.194G>A | NP_001280625.1:p.Arg65His | |
| NM_001293697.2:c.113G>A | NP_001280626.1:p.Arg38His | |
| NM_001293698.2:c.113G>A | NP_001280627.1:p.Arg38His | |
| NM_001113492.2:c.374G>A | NP_001106964.1:p.Arg125His | |
| NM_001113495.2:c.113G>A | NP_001106967.2:p.Arg38His | |
| NM_006640.5:c.812G>A MANE Plus Clinical | NP_006631.2:p.Arg271His |