Linked Data
dbSNP Id:
rs764389114
ExAC:
19:45855779 C / T
gnomAD v2:
19-45855779-C-T
gnomAD v3:
19-45352521-C-T
gnomAD v4:
19-45352521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352521C>T , CM000681.2:g.45352521C>T | GRCh38 |
| NC_000019.9:g.45855779C>T , CM000681.1:g.45855779C>T | GRCh37 |
| NC_000019.8:g.50547619C>T | NCBI36 |
| NG_007067.2:g.23067G>A , LRG_461:g.23067G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2031G>A | ENSP00000375808.4:p.Met677Ile | |
| ENST00000682414.1:c.2031G>A | ENSP00000507019.1:p.Met677Ile | |
| ENST00000682508.1:n.2060G>A | ||
| ENST00000684218.1:c.*1289G>A | ENSP00000507804.1:n.*1289G>A | |
| ENST00000684264.1:n.1587G>A | ||
| ENST00000684407.1:c.1908G>A | ENSP00000507775.1:p.Met636Ile | |
| ENST00000684458.1:c.*517G>A | ENSP00000508260.1:n.*517G>A | |
| ENST00000684468.1:n.1743G>A | ||
| ENST00000391945.10:c.2031G>A MANE Select | ENSP00000375809.4:p.Met677Ile | |
| ENST00000646507.1:n.2128G>A | ||
| ENST00000391941.6:c.1959G>A | ENSP00000375805.2:p.Met653Ile | |
| ENST00000391942.6:n.1202G>A | ||
| ENST00000391944.7:c.1797G>A | ENSP00000375808.3:p.Met599Ile | |
| ENST00000391945.8:c.2031G>A | ENSP00000375809.3:p.Met677Ile | |
| ENST00000588652.5:n.2119G>A | ||
| NM_000400.3:c.2031G>A , LRG_461t1:c.2031G>A | NP_000391.1:p.Met677Ile | |
| XM_011526611.1:c.1953G>A | XP_011524913.1:p.Met651Ile | |
| XM_011526611.2:c.1953G>A | XP_011524913.1:p.Met651Ile | |
| XM_017026467.1:c.1908G>A | XP_016881956.1:p.Met636Ile | |
| XR_001753633.2:n.2078G>A | ||
| XR_001753634.2:n.2014G>A | ||
| NM_000400.4:c.2031G>A MANE Select | NP_000391.1:p.Met677Ile |