Linked Data
ClinVar Variation Id:
1797159
ClinVar RCV Id:
RCV002437784
dbSNP Id:
rs1421003606
gnomAD v2:
2-44073415-G-T
gnomAD v3:
2-43846276-G-T
gnomAD v4:
2-43846276-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43846276G>T , CM000664.2:g.43846276G>T | GRCh38 |
| NC_000002.11:g.44073415G>T , CM000664.1:g.44073415G>T | GRCh37 |
| NC_000002.10:g.43926919G>T | NCBI36 |
| NG_008884.1:g.12313G>T | |
| NG_008884.2:g.19335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.287G>T MANE Select | ENSP00000272286.2:p.Arg96Ile | |
| ENST00000643284.1:n.744G>T | ||
| ENST00000644611.1:c.299G>T | ENSP00000495423.1:p.Arg100Ile | |
| ENST00000272286.2:c.287G>T | ENSP00000272286.2:p.Arg96Ile | |
| NM_022437.2:c.287G>T | NP_071882.1:p.Arg96Ile | |
| XM_005264483.2:c.287G>T | XP_005264540.1:p.Arg96Ile | |
| XM_011533029.1:c.299G>T | XP_011531331.1:p.Arg100Ile | |
| XM_011533030.1:c.299G>T | XP_011531332.1:p.Arg100Ile | |
| XM_011533031.1:c.71G>T | XP_011531333.1:p.Arg24Ile | |
| XR_939707.1:n.789G>T | ||
| NM_001357321.1:c.287G>T | NP_001344250.1:p.Arg96Ile | |
| XM_011533029.2:c.299G>T | XP_011531331.1:p.Arg100Ile | |
| XM_011533030.2:c.299G>T | XP_011531332.1:p.Arg100Ile | |
| XR_001738891.1:n.803G>T | ||
| XR_939707.2:n.803G>T | ||
| NM_022437.3:c.287G>T MANE Select | NP_071882.1:p.Arg96Ile | |
| NM_001357321.2:c.287G>T | NP_001344250.1:p.Arg96Ile |