Linked Data
dbSNP Id:
rs1051929
ExAC:
2:177036754 T / C
gnomAD v2:
2-177036754-T-C
gnomAD v3:
2-176172026-T-C
gnomAD v4:
2-176172026-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176172026T>C , CM000664.2:g.176172026T>C | GRCh38 |
| NC_000002.11:g.177036754T>C , CM000664.1:g.177036754T>C | GRCh37 |
| NC_000002.10:g.176745000T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683222.1:c.1051T>C MANE Select | ENSP00000507129.1:p.Leu351= | |
| ENST00000249440.4:c.1051T>C | ENSP00000249440.2:p.Leu351= | |
| ENST00000410016.5:c.1051T>C | ENSP00000386498.1:p.Leu351= | |
| ENST00000468418.4:c.*1460T>C | ENSP00000424734.3:n.*1460T>C | |
| NM_006898.4:c.1051T>C | NP_008829.3:p.Leu351= | |
| XM_005246509.2:c.1051T>C | XP_005246566.1:p.Leu351= | |
| XM_005246510.3:c.1051T>C | XP_005246567.1:p.Leu351= | |
| XM_005246511.2:c.1051T>C | XP_005246568.1:p.Leu351= | |
| XM_005246513.3:c.1051T>C | XP_005246570.1:p.Leu351= | |
| XM_006712477.2:c.1051T>C | XP_006712540.1:p.Leu351= | |
| XM_011511065.1:c.1051T>C | XP_011509367.1:p.Leu351= | |
| XM_011511066.1:c.1051T>C | XP_011509368.1:p.Leu351= | |
| XM_005246509.4:c.1051T>C | XP_005246566.1:p.Leu351= | |
| XM_005246511.4:c.1051T>C | XP_005246568.1:p.Leu351= | |
| XM_005246513.5:c.1051T>C | XP_005246570.1:p.Leu351= | |
| XM_011511065.3:c.1051T>C | XP_011509367.1:p.Leu351= | |
| XM_011511066.3:c.1051T>C | XP_011509368.1:p.Leu351= | |
| NM_006898.5:c.1051T>C MANE Select | NP_008829.3:p.Leu351= |