Linked Data
ClinVar Variation Id:
1469683
ClinVar RCV Id:
RCV001961694
dbSNP Id:
rs62645755
ExAC:
1:197391086 G / A
gnomAD v2:
1-197391086-G-A
gnomAD v3:
1-197421956-G-A
gnomAD v4:
1-197421956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421956G>A , CM000663.2:g.197421956G>A | GRCh38 |
| NC_000001.10:g.197391086G>A , CM000663.1:g.197391086G>A | GRCh37 |
| NC_000001.9:g.195657709G>A | NCBI36 |
| NG_008483.1:g.158679G>A | |
| NG_008483.2:g.225495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2128G>A MANE Select | ENSP00000356370.3:p.Glu710Lys | |
| ENST00000638467.1:c.2128G>A | ENSP00000491102.1:p.Glu710Lys | |
| ENST00000681519.1:c.1009G>A | ENSP00000505267.1:p.Glu337Lys | |
| ENST00000367397.1:c.271G>A | ENSP00000356367.1:p.Glu91Lys | |
| ENST00000367399.6:c.1792G>A | ENSP00000356369.2:p.Glu598Lys | |
| ENST00000367400.7:c.2128G>A | ENSP00000356370.3:p.Glu710Lys | |
| ENST00000484075.5:c.2128G>A | ENSP00000433932.1:p.Glu710Lys | |
| ENST00000535699.5:c.1921G>A | ENSP00000438786.1:p.Glu641Lys | |
| ENST00000538660.5:c.2128G>A | ENSP00000438091.1:p.Gly710Arg | |
| NM_001193640.1:c.1792G>A | NP_001180569.1:p.Glu598Lys | |
| NM_001257965.1:c.1921G>A | NP_001244894.1:p.Glu641Lys | |
| NM_001257966.1:c.2128G>A | NP_001244895.1:p.Gly710Arg | |
| NM_201253.2:c.2128G>A | NP_957705.1:p.Glu710Lys | |
| NR_047563.1:n.2129G>A | ||
| NR_047564.1:n.2337G>A | ||
| XM_011509365.1:c.2128G>A | XP_011507667.1:p.Glu710Lys | |
| XM_011509366.1:c.2128G>A | XP_011507668.1:p.Glu710Lys | |
| XM_011509367.1:c.2128G>A | XP_011507669.1:p.Glu710Lys | |
| XM_011509368.1:c.1546G>A | XP_011507670.1:p.Glu516Lys | |
| XM_011509369.1:c.571G>A | XP_011507671.1:p.Glu191Lys | |
| XM_011509365.2:c.2128G>A | XP_011507667.1:p.Glu710Lys | |
| XM_011509369.2:c.571G>A | XP_011507671.1:p.Glu191Lys | |
| XM_017000851.1:c.1285G>A | XP_016856340.1:p.Glu429Lys | |
| XM_017000852.1:c.2128G>A | XP_016856341.1:p.Glu710Lys | |
| NM_201253.3:c.2128G>A MANE Select | NP_957705.1:p.Glu710Lys | |
| NM_001193640.2:c.1792G>A | NP_001180569.1:p.Glu598Lys | |
| NM_001257965.2:c.1921G>A | NP_001244894.1:p.Glu641Lys | |
| NR_047563.2:n.2081G>A | ||
| NR_047564.2:n.2289G>A | ||
| NM_001257966.2:c.2128G>A | NP_001244895.1:p.Gly710Arg |