Linked Data
ClinVar Variation Id:
422511
ClinVar RCV Id:
RCV000485443
dbSNP Id:
rs1064795826
gnomAD v2:
9-97365800-C-T
gnomAD v3:
9-94603518-C-T
gnomAD v4:
9-94603518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94603518C>T , CM000671.2:g.94603518C>T | GRCh38 |
| NC_000009.11:g.97365800C>T , CM000671.1:g.97365800C>T | GRCh37 |
| NC_000009.10:g.96405621C>T | NCBI36 |
| NG_008174.1:g.41732G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682520.1:c.1040G>A | ENSP00000507547.1:n.1040G>A | |
| ENST00000375326.9:c.880G>A MANE Select | ENSP00000364475.5:p.Gly294Arg | |
| ENST00000648117.1:c.685G>A | ENSP00000498145.1:p.Gly229Arg | |
| ENST00000375326.8:c.880G>A | ENSP00000364475.4:p.Gly294Arg | |
| ENST00000415431.5:c.880G>A | ENSP00000408025.1:p.Gly294Arg | |
| NM_000507.3:c.880G>A | NP_000498.2:p.Gly294Arg | |
| NM_001127628.1:c.880G>A | NP_001121100.1:p.Gly294Arg | |
| XM_006717005.2:c.634G>A | XP_006717068.1:p.Gly212Arg | |
| XM_006717005.4:c.634G>A | XP_006717068.1:p.Gly212Arg | |
| NM_000507.4:c.880G>A MANE Select | NP_000498.2:p.Gly294Arg | |
| NM_001127628.2:c.880G>A | NP_001121100.1:p.Gly294Arg |