Linked Data
ClinVar Variation Id:
337206
ClinVar RCV Id:
RCV000260168
dbSNP Id:
rs72843835
gnomAD v2:
2-85773986-A-G
gnomAD v3:
2-85546863-A-G
gnomAD v4:
2-85546863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546863A>G , CM000664.2:g.85546863A>G | GRCh38 |
| NC_000002.11:g.85773986A>G , CM000664.1:g.85773986A>G | GRCh37 |
| NC_000002.10:g.85627497A>G | NCBI36 |
| NG_011811.2:g.19672T>C | |
| NG_029183.1:g.12886A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233838.9:c.*3071T>C MANE Select | ENSP00000233838.3:n.*3071T>C | |
| ENST00000233838.8:c.*3071T>C | ENSP00000233838.3:n.*3071T>C | |
| NM_000821.5:c.*3071T>C | NP_000812.2:n.*3071T>C | |
| NM_000821.6:c.*3071T>C | NP_000812.2:n.*3071T>C | |
| NM_001142269.2:c.*3071T>C | NP_001135741.1:n.*3071T>C | |
| NM_001142269.3:c.*3071T>C | NP_001135741.1:n.*3071T>C | |
| NM_000821.7:c.*3071T>C MANE Select | NP_000812.2:n.*3071T>C | |
| NM_001142269.4:c.*3071T>C | NP_001135741.1:n.*3071T>C |