Linked Data
ClinVar Variation Id:
3100451
ClinVar RCV Id:
RCV004393348
dbSNP Id:
rs769261253
ExAC:
5:150639440 T / C
gnomAD v2:
5-150639440-T-C
gnomAD v3:
5-151259879-T-C
gnomAD v4:
5-151259879-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259879T>C , CM000667.2:g.151259879T>C | GRCh38 |
| NC_000005.9:g.150639440T>C , CM000667.1:g.150639440T>C | GRCh37 |
| NC_000005.8:g.150619633T>C | NCBI36 |
| NG_009059.1:g.11828T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.206T>C MANE Select | ENSP00000349687.3:p.Met69Thr | |
| ENST00000357164.3:c.206T>C | ENSP00000349687.3:p.Met69Thr | |
| ENST00000523004.1:c.81T>C | ||
| ENST00000523466.5:c.251T>C | ENSP00000429100.1:p.Met84Thr | |
| NM_000405.4:c.206T>C | NP_000396.2:p.Met69Thr | |
| NM_001167607.1:c.206T>C | NP_001161079.1:p.Met69Thr | |
| NM_000405.5:c.206T>C MANE Select | NP_000396.2:p.Met69Thr | |
| NM_001167607.2:c.206T>C | NP_001161079.1:p.Met69Thr | |
| NM_001167607.3:c.206T>C | NP_001161079.1:p.Met69Thr |