Linked Data
dbSNP Id:
rs771643379
ExAC:
10:28151523 A / G
gnomAD v2:
10-28151523-A-G
gnomAD v4:
10-27862594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27862594A>G , CM000672.2:g.27862594A>G | GRCh38 |
| NC_000010.10:g.28151523A>G , CM000672.1:g.28151523A>G | GRCh37 |
| NC_000010.9:g.28191529A>G | NCBI36 |
| NG_042820.1:g.141457T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305242.10:c.2639T>C MANE Select | ENSP00000306410.5:p.Val880Ala | |
| ENST00000672841.1:c.1715T>C | ENSP00000499983.1:p.Val572Ala | |
| ENST00000672877.1:c.1214T>C | ENSP00000500120.1:p.Val405Ala | |
| ENST00000673384.1:c.1715T>C | ENSP00000500856.1:p.Val572Ala | |
| ENST00000673439.1:c.2639T>C | ENSP00000500782.1:p.Val880Ala | |
| ENST00000305242.9:c.2639T>C | ENSP00000306410.5:p.Val880Ala | |
| NM_001290020.1:c.2639T>C | NP_001276949.1:p.Val880Ala | |
| NM_001290021.1:c.1214T>C | NP_001276950.1:p.Val405Ala | |
| NM_001312689.1:c.1715T>C | NP_001299618.1:p.Val572Ala | |
| NM_018076.3:c.2639T>C | NP_060546.2:p.Val880Ala | |
| NM_018076.4:c.2639T>C | NP_060546.2:p.Val880Ala | |
| XM_011519526.1:c.2639T>C | XP_011517828.1:p.Val880Ala | |
| XM_011519527.1:c.2639T>C | XP_011517829.1:p.Val880Ala | |
| XM_011519528.1:c.2639T>C | XP_011517830.1:p.Val880Ala | |
| XM_011519529.1:c.2639T>C | XP_011517831.1:p.Val880Ala | |
| XM_011519530.1:c.2639T>C | XP_011517832.1:p.Val880Ala | |
| XM_011519531.1:c.2639T>C | XP_011517833.1:p.Val880Ala | |
| XM_011519532.1:c.2429T>C | XP_011517834.1:p.Val810Ala | |
| XM_011519533.1:c.1715T>C | XP_011517835.1:p.Val572Ala | |
| XM_011519534.1:c.1715T>C | XP_011517836.1:p.Val572Ala | |
| XM_011519535.1:c.1553T>C | XP_011517837.1:p.Val518Ala | |
| XM_011519537.1:c.1214T>C | XP_011517839.1:p.Val405Ala | |
| XM_024448049.1:c.2768T>C | XP_024303817.1:p.Val923Ala | |
| XM_024448050.1:c.2768T>C | XP_024303818.1:p.Val923Ala | |
| XM_024448051.1:c.2768T>C | XP_024303819.1:p.Val923Ala | |
| XM_024448052.1:c.2768T>C | XP_024303820.1:p.Val923Ala | |
| XM_024448053.1:c.2768T>C | XP_024303821.1:p.Val923Ala | |
| XM_024448054.1:c.2558T>C | XP_024303822.1:p.Val853Ala | |
| XM_024448055.1:c.1844T>C | XP_024303823.1:p.Val615Ala | |
| XM_024448056.1:c.1844T>C | XP_024303824.1:p.Val615Ala | |
| XM_024448057.1:c.1682T>C | XP_024303825.1:p.Val561Ala | |
| XM_024448058.1:c.1343T>C | XP_024303826.1:p.Val448Ala | |
| NM_001290020.2:c.2639T>C | NP_001276949.1:p.Val880Ala | |
| NM_001290021.2:c.1214T>C | NP_001276950.1:p.Val405Ala | |
| NM_001312689.2:c.1715T>C | NP_001299618.1:p.Val572Ala | |
| NM_018076.5:c.2639T>C MANE Select | NP_060546.2:p.Val880Ala |