Linked Data
ClinVar Variation Id:
1153773
ClinVar RCV Id:
RCV001495546
dbSNP Id:
rs2113695768
gnomAD v4:
5-149977880-G-A
MyVariant Identifiers:
chr5:g.149357443G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977880G>A , CM000667.2:g.149977880G>A | GRCh38 |
| NC_000005.9:g.149357443G>A , CM000667.1:g.149357443G>A | GRCh37 |
| NC_000005.8:g.149337636G>A | NCBI36 |
| NG_007147.2:g.18998G>A , LRG_684:g.18998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.460G>A | ||
| ENST00000286298.5:c.228G>A MANE Select | ENSP00000286298.4:p.Lys76= | |
| ENST00000286298.4:c.228G>A | ENSP00000286298.4:p.Lys76= | |
| NM_000112.3:c.228G>A , LRG_684t1:c.228G>A | NP_000103.2:p.Lys76= | |
| XM_017009191.2:c.228G>A | XP_016864680.1:p.Lys76= | |
| NM_000112.4:c.228G>A MANE Select | NP_000103.2:p.Lys76= |