Linked Data
ClinVar Variation Id:
1166906
ClinVar RCV Id:
RCV001515641
dbSNP Id:
rs3739070
ExAC:
2:239306268 A / C
gnomAD v2:
2-239306268-A-C
gnomAD v3:
2-238397627-A-C
gnomAD v4:
2-238397627-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238397627A>C , CM000664.2:g.238397627A>C | GRCh38 |
| NC_000002.11:g.239306268A>C , CM000664.1:g.239306268A>C | GRCh37 |
| NC_000002.10:g.238971007A>C | NCBI36 |
| NG_053055.1:g.82139A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373327.5:c.1858A>C MANE Select | ENSP00000362424.4:p.Met620Leu | |
| ENST00000373327.4:c.1858A>C | ENSP00000362424.4:p.Met620Leu | |
| ENST00000391993.7:c.1660A>C | ENSP00000375851.3:p.Met554Leu | |
| ENST00000462122.1:n.869A>C | ||
| ENST00000483951.1:n.206A>C | ||
| NM_001139490.1:c.1660A>C | NP_001132962.1:p.Met554Leu | |
| NM_015650.3:c.1858A>C | NP_056465.2:p.Met620Leu | |
| XM_006712414.1:c.1657A>C | XP_006712477.1:p.Met553Leu | |
| XM_011510944.1:c.1960A>C | XP_011509246.1:p.Met654Leu | |
| XM_011510945.1:c.1921A>C | XP_011509247.1:p.Met641Leu | |
| XM_011510946.1:c.1888A>C | XP_011509248.1:p.Met630Leu | |
| XM_011510947.1:c.1828A>C | XP_011509249.1:p.Met610Leu | |
| XM_011510948.1:c.1762A>C | XP_011509250.1:p.Met588Leu | |
| XM_011510950.1:c.826A>C | XP_011509252.1:p.Met276Leu | |
| XM_006712414.2:c.1657A>C | XP_006712477.1:p.Met553Leu | |
| XM_011510944.2:c.1960A>C | XP_011509246.1:p.Met654Leu | |
| XM_011510945.2:c.1921A>C | XP_011509247.1:p.Met641Leu | |
| XM_011510946.2:c.1888A>C | XP_011509248.1:p.Met630Leu | |
| XM_011510947.2:c.1828A>C | XP_011509249.1:p.Met610Leu | |
| XM_011510948.2:c.1762A>C | XP_011509250.1:p.Met588Leu | |
| XM_011510950.2:c.826A>C | XP_011509252.1:p.Met276Leu | |
| XM_017003789.1:c.1957A>C | XP_016859278.1:p.Met653Leu | |
| XR_001738696.1:n.1686A>C | ||
| XR_001738697.1:n.1683A>C | ||
| NM_015650.4:c.1858A>C MANE Select | NP_056465.2:p.Met620Leu |