Linked Data
dbSNP Id:
rs772160830
ExAC:
11:119548297 C / T
gnomAD v2:
11-119548297-C-T
gnomAD v3:
11-119677587-C-T
gnomAD v4:
11-119677587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119677587C>T , CM000673.2:g.119677587C>T | GRCh38 |
| NC_000011.9:g.119548297C>T , CM000673.1:g.119548297C>T | GRCh37 |
| NC_000011.8:g.119053507C>T | NCBI36 |
| NG_013083.1:g.56139G>A | |
| NG_013083.2:g.56139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531468.2:c.701G>A | ENSP00000513010.1:p.Arg234His | |
| ENST00000264025.8:c.701G>A MANE Select | ENSP00000264025.3:p.Arg234His | |
| ENST00000264025.7:c.701G>A | ENSP00000264025.3:p.Arg234His | |
| ENST00000340882.2:c.701G>A | ENSP00000345289.2:p.Arg234His | |
| ENST00000341398.6:c.701G>A | ENSP00000344974.2:p.Arg234His | |
| ENST00000524510.1:n.675G>A | ||
| ENST00000532197.1:n.15G>A | ||
| NM_002855.4:c.701G>A | NP_002846.3:p.Arg234His | |
| NM_203285.1:c.701G>A | NP_976030.1:p.Arg234His | |
| NM_203286.1:c.701G>A | NP_976031.1:p.Arg234His | |
| NM_002855.5:c.701G>A MANE Select | NP_002846.3:p.Arg234His | |
| NM_203285.2:c.701G>A | NP_976030.1:p.Arg234His | |
| NM_203286.2:c.701G>A | NP_976031.1:p.Arg234His |