Linked Data
ClinVar Variation Id:
294668
ClinVar RCV Id:
RCV000285066
RCV000347681
RCV000384124
RCV001271894
RCV000945440
RCV003888696
RCV003454863
RCV004537638
dbSNP Id:
rs114846212
ExAC:
1:197313422 G / A
gnomAD v2:
1-197313422-G-A
gnomAD v3:
1-197344292-G-A
gnomAD v4:
1-197344292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197344292G>A , CM000663.2:g.197344292G>A | GRCh38 |
| NC_000001.10:g.197313422G>A , CM000663.1:g.197313422G>A | GRCh37 |
| NC_000001.9:g.195580045G>A | NCBI36 |
| NG_008483.1:g.81015G>A | |
| NG_008483.2:g.147831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.664G>A MANE Select | ENSP00000356370.3:p.Glu222Lys | |
| ENST00000638467.1:c.664G>A | ENSP00000491102.1:p.Glu222Lys | |
| ENST00000367399.6:c.653-12539G>A | ENSP00000356369.2:n.653-12539G>A | |
| ENST00000367400.7:c.664G>A | ENSP00000356370.3:p.Glu222Lys | |
| ENST00000475659.1:n.801G>A | ||
| ENST00000484075.5:c.664G>A | ENSP00000433932.1:p.Glu222Lys | |
| ENST00000535699.5:c.457G>A | ENSP00000438786.1:p.Glu153Lys | |
| ENST00000538660.5:c.664G>A | ENSP00000438091.1:p.Glu222Lys | |
| NM_001193640.1:c.653-12539G>A | NP_001180569.1:n.653-12539G>A | |
| NM_001257965.1:c.457G>A | NP_001244894.1:p.Glu153Lys | |
| NM_001257966.1:c.664G>A | NP_001244895.1:p.Glu222Lys | |
| NM_201253.2:c.664G>A | NP_957705.1:p.Glu222Lys | |
| NR_047563.1:n.873G>A | ||
| NR_047564.1:n.873G>A | ||
| XM_011509365.1:c.664G>A | XP_011507667.1:p.Glu222Lys | |
| XM_011509366.1:c.664G>A | XP_011507668.1:p.Glu222Lys | |
| XM_011509367.1:c.664G>A | XP_011507669.1:p.Glu222Lys | |
| XM_011509368.1:c.82G>A | XP_011507670.1:p.Glu28Lys | |
| XM_011509365.2:c.664G>A | XP_011507667.1:p.Glu222Lys | |
| XM_017000851.1:c.-40G>A | XP_016856340.1:n.-40G>A | |
| XM_017000852.1:c.664G>A | XP_016856341.1:p.Glu222Lys | |
| NM_201253.3:c.664G>A MANE Select | NP_957705.1:p.Glu222Lys | |
| NM_001193640.2:c.653-12539G>A | NP_001180569.1:n.653-12539G>A | |
| NM_001257965.2:c.457G>A | NP_001244894.1:p.Glu153Lys | |
| NR_047563.2:n.825G>A | ||
| NR_047564.2:n.825G>A | ||
| NM_001257966.2:c.664G>A | NP_001244895.1:p.Glu222Lys |