Linked Data
dbSNP Id:
rs760983781
ExAC:
19:45855777 A / G
gnomAD v2:
19-45855777-A-G
gnomAD v4:
19-45352519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352519A>G , CM000681.2:g.45352519A>G | GRCh38 |
| NC_000019.9:g.45855777A>G , CM000681.1:g.45855777A>G | GRCh37 |
| NC_000019.8:g.50547617A>G | NCBI36 |
| NG_007067.2:g.23069T>C , LRG_461:g.23069T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2033T>C | ENSP00000375808.4:p.Val678Ala | |
| ENST00000682414.1:c.2033T>C | ENSP00000507019.1:p.Val678Ala | |
| ENST00000682508.1:n.2062T>C | ||
| ENST00000684218.1:c.*1291T>C | ENSP00000507804.1:n.*1291T>C | |
| ENST00000684264.1:n.1589T>C | ||
| ENST00000684407.1:c.1910T>C | ENSP00000507775.1:p.Val637Ala | |
| ENST00000684458.1:c.*519T>C | ENSP00000508260.1:n.*519T>C | |
| ENST00000684468.1:n.1745T>C | ||
| ENST00000391945.10:c.2033T>C MANE Select | ENSP00000375809.4:p.Val678Ala | |
| ENST00000646507.1:n.2130T>C | ||
| ENST00000391941.6:c.1961T>C | ENSP00000375805.2:p.Val654Ala | |
| ENST00000391942.6:n.1204T>C | ||
| ENST00000391944.7:c.1799T>C | ENSP00000375808.3:p.Val600Ala | |
| ENST00000391945.8:c.2033T>C | ENSP00000375809.3:p.Val678Ala | |
| ENST00000588652.5:n.2121T>C | ||
| NM_000400.3:c.2033T>C , LRG_461t1:c.2033T>C | NP_000391.1:p.Val678Ala | |
| XM_011526611.1:c.1955T>C | XP_011524913.1:p.Val652Ala | |
| XM_011526611.2:c.1955T>C | XP_011524913.1:p.Val652Ala | |
| XM_017026467.1:c.1910T>C | XP_016881956.1:p.Val637Ala | |
| XR_001753633.2:n.2080T>C | ||
| XR_001753634.2:n.2016T>C | ||
| NM_000400.4:c.2033T>C MANE Select | NP_000391.1:p.Val678Ala |