Linked Data
ClinVar Variation Id:
2321922
ClinVar RCV Id:
RCV004170564
dbSNP Id:
rs1969304235
gnomAD v4:
19-41012680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012680G>A , CM000681.2:g.41012680G>A | GRCh38 |
| NC_000019.9:g.41518585G>A , CM000681.1:g.41518585G>A | GRCh37 |
| NC_000019.8:g.46210425G>A | NCBI36 |
| NG_007929.1:g.26382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1159G>A MANE Select | ENSP00000324648.2:p.Glu387Lys | |
| ENST00000598834.2:c.1176+195G>A | ||
| ENST00000324071.8:c.1159G>A | ENSP00000324648.2:p.Glu387Lys | |
| ENST00000593831.1:c.451G>A | ENSP00000470582.1:p.Glu151Lys | |
| ENST00000597612.1:n.647+195G>A | ||
| NM_000767.4:c.1159G>A | NP_000758.1:p.Glu387Lys | |
| XM_005258569.3:c.1152+195G>A | XP_005258626.1:n.1152+195G>A | |
| XM_006723050.2:c.1159G>A | XP_006723113.1:p.Glu387Lys | |
| XM_011526546.1:c.1153-136G>A | XP_011524848.1:n.1153-136G>A | |
| XM_011526547.1:c.1152+195G>A | XP_011524849.1:n.1152+195G>A | |
| XM_011526548.1:c.679G>A | XP_011524850.1:p.Glu227Lys | |
| XM_011526549.1:c.568G>A | XP_011524851.1:p.Glu190Lys | |
| XM_011526550.1:c.559G>A | XP_011524852.1:p.Glu187Lys | |
| NM_000767.5:c.1159G>A MANE Select | NP_000758.1:p.Glu387Lys |