Linked Data
ClinVar Variation Id:
2157860
ClinVar RCV Id:
RCV003078311
dbSNP Id:
rs540011509
ExAC:
4:52894160 T / C
gnomAD v2:
4-52894160-T-C
gnomAD v3:
4-52027994-T-C
gnomAD v4:
4-52027994-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027994T>C , CM000666.2:g.52027994T>C | GRCh38 |
| NC_000004.11:g.52894160T>C , CM000666.1:g.52894160T>C | GRCh37 |
| NC_000004.10:g.52588917T>C | NCBI36 |
| NG_008891.1:g.15326A>G , LRG_204:g.15326A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.727A>G MANE Select | ENSP00000370839.6:p.Met243Val | |
| ENST00000381431.9:c.727A>G | ENSP00000370839.5:p.Met243Val | |
| NM_000232.4:c.727A>G , LRG_204t1:c.727A>G | NP_000223.1:p.Met243Val | |
| XM_006714049.2:c.430A>G | XP_006714112.1:p.Met144Val | |
| XM_011534403.1:c.517A>G | XP_011532705.1:p.Met173Val | |
| XM_011534404.1:c.430A>G | XP_011532706.1:p.Met144Val | |
| NM_000232.5:c.727A>G MANE Select | NP_000223.1:p.Met243Val |