Linked Data
ClinVar Variation Id:
2399798
ClinVar RCV Id:
RCV004240318
dbSNP Id:
rs775157474
ExAC:
10:28151524 C / T
gnomAD v2:
10-28151524-C-T
gnomAD v3:
10-27862595-C-T
gnomAD v4:
10-27862595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27862595C>T , CM000672.2:g.27862595C>T | GRCh38 |
| NC_000010.10:g.28151524C>T , CM000672.1:g.28151524C>T | GRCh37 |
| NC_000010.9:g.28191530C>T | NCBI36 |
| NG_042820.1:g.141456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305242.10:c.2638G>A MANE Select | ENSP00000306410.5:p.Val880Ile | |
| ENST00000672841.1:c.1714G>A | ENSP00000499983.1:p.Val572Ile | |
| ENST00000672877.1:c.1213G>A | ENSP00000500120.1:p.Val405Ile | |
| ENST00000673384.1:c.1714G>A | ENSP00000500856.1:p.Val572Ile | |
| ENST00000673439.1:c.2638G>A | ENSP00000500782.1:p.Val880Ile | |
| ENST00000305242.9:c.2638G>A | ENSP00000306410.5:p.Val880Ile | |
| NM_001290020.1:c.2638G>A | NP_001276949.1:p.Val880Ile | |
| NM_001290021.1:c.1213G>A | NP_001276950.1:p.Val405Ile | |
| NM_001312689.1:c.1714G>A | NP_001299618.1:p.Val572Ile | |
| NM_018076.3:c.2638G>A | NP_060546.2:p.Val880Ile | |
| NM_018076.4:c.2638G>A | NP_060546.2:p.Val880Ile | |
| XM_011519526.1:c.2638G>A | XP_011517828.1:p.Val880Ile | |
| XM_011519527.1:c.2638G>A | XP_011517829.1:p.Val880Ile | |
| XM_011519528.1:c.2638G>A | XP_011517830.1:p.Val880Ile | |
| XM_011519529.1:c.2638G>A | XP_011517831.1:p.Val880Ile | |
| XM_011519530.1:c.2638G>A | XP_011517832.1:p.Val880Ile | |
| XM_011519531.1:c.2638G>A | XP_011517833.1:p.Val880Ile | |
| XM_011519532.1:c.2428G>A | XP_011517834.1:p.Val810Ile | |
| XM_011519533.1:c.1714G>A | XP_011517835.1:p.Val572Ile | |
| XM_011519534.1:c.1714G>A | XP_011517836.1:p.Val572Ile | |
| XM_011519535.1:c.1552G>A | XP_011517837.1:p.Val518Ile | |
| XM_011519537.1:c.1213G>A | XP_011517839.1:p.Val405Ile | |
| XM_024448049.1:c.2767G>A | XP_024303817.1:p.Val923Ile | |
| XM_024448050.1:c.2767G>A | XP_024303818.1:p.Val923Ile | |
| XM_024448051.1:c.2767G>A | XP_024303819.1:p.Val923Ile | |
| XM_024448052.1:c.2767G>A | XP_024303820.1:p.Val923Ile | |
| XM_024448053.1:c.2767G>A | XP_024303821.1:p.Val923Ile | |
| XM_024448054.1:c.2557G>A | XP_024303822.1:p.Val853Ile | |
| XM_024448055.1:c.1843G>A | XP_024303823.1:p.Val615Ile | |
| XM_024448056.1:c.1843G>A | XP_024303824.1:p.Val615Ile | |
| XM_024448057.1:c.1681G>A | XP_024303825.1:p.Val561Ile | |
| XM_024448058.1:c.1342G>A | XP_024303826.1:p.Val448Ile | |
| NM_001290020.2:c.2638G>A | NP_001276949.1:p.Val880Ile | |
| NM_001290021.2:c.1213G>A | NP_001276950.1:p.Val405Ile | |
| NM_001312689.2:c.1714G>A | NP_001299618.1:p.Val572Ile | |
| NM_018076.5:c.2638G>A MANE Select | NP_060546.2:p.Val880Ile |