Linked Data
ClinVar Variation Id:
135665
ClinVar RCV Id:
RCV000122743
RCV000517019
RCV000988924
RCV001640109
RCV002390275
RCV002468567
RCV003915222
dbSNP Id:
rs483353044
ExAC:
12:121437091 G / A
gnomAD v2:
12-121437091-G-A
gnomAD v3:
12-120999288-G-A
gnomAD v4:
12-120999288-G-A
ERepo:
CA289173/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999288G>A , CM000674.2:g.120999288G>A | GRCh38 |
| NC_000012.11:g.121437091G>A , CM000674.1:g.121437091G>A | GRCh37 |
| NC_000012.10:g.119921474G>A | NCBI36 |
| NG_011731.2:g.25543G>A , LRG_522:g.25543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*269G>A | ENSP00000453965.2:n.*269G>A | |
| ENST00000257555.11:c.1522G>A MANE Select | ENSP00000257555.5:p.Glu508Lys | |
| ENST00000257555.10:c.1522G>A | ENSP00000257555.4:p.Glu508Lys | |
| ENST00000540108.1:c.*962G>A | ENSP00000445445.1:n.*962G>A | |
| ENST00000541395.5:c.1522G>A | ENSP00000443112.1:p.Glu508Lys | |
| ENST00000543427.5:c.985G>A | ENSP00000439721.2:p.Glu329Lys | |
| ENST00000544413.2:c.1522G>A | ENSP00000438804.1:p.Glu508Lys | |
| ENST00000560968.5:c.1339G>A | ||
| ENST00000615446.4:c.310G>A | ENSP00000483994.1:p.Glu104Lys | |
| ENST00000617366.4:c.639G>A | ENSP00000481967.1:p.Pro213= | |
| NM_000545.5:c.1522G>A , LRG_522t1:c.1522G>A | NP_000536.5:p.Glu508Lys | |
| NM_000545.6:c.1522G>A | NP_000536.5:p.Glu508Lys | |
| NM_001306179.1:c.1522G>A | NP_001293108.1:p.Glu508Lys | |
| XM_005253931.2:c.1522G>A | XP_005253988.1:p.Glu508Lys | |
| XM_024449168.1:c.1522G>A | XP_024304936.1:p.Glu508Lys | |
| NM_000545.8:c.1522G>A MANE Select | NP_000536.6:p.Glu508Lys | |
| NM_001306179.2:c.1522G>A | NP_001293108.2:p.Glu508Lys |