Linked Data
ClinVar Variation Id:
391361
ClinVar RCV Id:
RCV000427441
dbSNP Id:
rs1057524053
gnomAD v2:
X-122561913-A-G
gnomAD v3:
X-123428062-A-G
gnomAD v4:
X-123428062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123428062A>G , CM000685.2:g.123428062A>G | GRCh38 |
| NC_000023.10:g.122561913A>G , CM000685.1:g.122561913A>G | GRCh37 |
| NC_000023.9:g.122389594A>G | NCBI36 |
| NG_009377.2:g.248820A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620443.2:c.1999A>G MANE Select | ENSP00000478489.1:p.Ser667Gly | |
| ENST00000622768.5:c.1999A>G MANE Plus Clinical | ENSP00000481554.1:p.Ser667Gly | |
| ENST00000541091.5:c.1999A>G | ENSP00000446440.2:p.Ser667Gly | |
| ENST00000620443.1:c.1999A>G | ENSP00000478489.1:p.Ser667Gly | |
| ENST00000620581.4:c.1999A>G | ENSP00000481875.1:p.Ser667Gly | |
| ENST00000622768.4:c.1999A>G | ENSP00000481554.1:p.Ser667Gly | |
| NM_000828.4:c.1999A>G | NP_000819.3:p.Ser667Gly | |
| NM_007325.4:c.1999A>G | NP_015564.4:p.Ser667Gly | |
| XR_938574.1:n.5217+9188T>C | ||
| NM_007325.5:c.1999A>G MANE Select | NP_015564.5:p.Ser667Gly | |
| NM_000828.5:c.1999A>G MANE Plus Clinical | NP_000819.4:p.Ser667Gly |