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:
945
ClinVar RCV Id:
RCV000000994
RCV000000995
RCV000059350
RCV000078708
RCV000175600
RCV000778693
RCV000811276
RCV000850557
RCV000984179
RCV001813729
dbSNP Id:
rs72555392
ExAC:
3:33114105 C / T
gnomAD v2:
3-33114105-C-T
gnomAD v4:
3-33072613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33072613C>T , CM000665.2:g.33072613C>T | GRCh38 |
| NC_000003.11:g.33114105C>T , CM000665.1:g.33114105C>T | GRCh37 |
| NC_000003.10:g.33089109C>T | NCBI36 |
| NG_009005.1:g.29590G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307363.10:c.176G>A MANE Select | ENSP00000306920.4:p.Arg59His | |
| ENST00000307363.9:c.176G>A | ENSP00000306920.4:p.Arg59His | |
| ENST00000307377.12:c.176G>A | ENSP00000305920.8:p.Arg59His | |
| ENST00000399402.7:c.86G>A | ENSP00000382333.2:p.Arg29His | |
| ENST00000415454.1:c.76-14344G>A | ENSP00000411813.1:n.76-14344G>A | |
| ENST00000436768.1:c.320G>A | ENSP00000387989.1:p.Arg107His | |
| ENST00000438227.1:c.76-7056G>A | ENSP00000401250.1:n.76-7056G>A | |
| ENST00000440656.1:c.-148-3643G>A | ENSP00000411769.1:n.-148-3643G>A | |
| ENST00000446732.5:c.86G>A | ENSP00000407365.1:p.Arg29His | |
| ENST00000450835.1:c.86G>A | ENSP00000403264.1:p.Arg29His | |
| ENST00000464355.1:n.134G>A | ||
| ENST00000482097.5:n.109-19064G>A | ||
| ENST00000485698.5:n.137-19064G>A | ||
| ENST00000498537.5:n.133-19064G>A | ||
| NM_000404.2:c.176G>A | NP_000395.2:p.Arg59His | |
| NM_000404.3:c.176G>A | NP_000395.2:p.Arg59His | |
| NM_001079811.1:c.86G>A | NP_001073279.1:p.Arg29His | |
| NM_001079811.2:c.86G>A | NP_001073279.1:p.Arg29His | |
| NM_001135602.1:c.176G>A | NP_001129074.1:p.Arg59His | |
| NM_001135602.2:c.176G>A | NP_001129074.1:p.Arg59His | |
| NM_001317040.1:c.320G>A | NP_001303969.1:p.Arg107His | |
| NM_000404.4:c.176G>A MANE Select | NP_000395.3:p.Arg59His | |
| NM_001079811.3:c.86G>A | NP_001073279.2:p.Arg29His | |
| NM_001135602.3:c.176G>A | NP_001129074.2:p.Arg59His | |
| NM_001317040.2:c.320G>A | NP_001303969.2:p.Arg107His | |
| NM_001393580.1:c.176G>A | NP_001380509.1:p.Arg59His |