Linked Data
ClinVar Variation Id:
1550426
ClinVar RCV Id:
RCV002189698
dbSNP Id:
rs746075352
ExAC:
X:8699980 C / G
gnomAD v2:
X-8699980-C-G
gnomAD v3:
X-8731939-C-G
gnomAD v4:
X-8731939-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731939C>G , CM000685.2:g.8731939C>G | GRCh38 |
| NC_000023.10:g.8699980C>G , CM000685.1:g.8699980C>G | GRCh37 |
| NC_000023.9:g.8659980C>G | NCBI36 |
| NG_007088.1:g.5248G>C | |
| NG_007088.2:g.5248G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.98G>C MANE Select | ENSP00000262648.3:p.Arg33Pro | |
| ENST00000262648.7:c.98G>C | ENSP00000262648.3:p.Arg33Pro | |
| ENST00000619786.1:c.96G>C | ENSP00000478734.1:p.Ala32= | |
| NM_000216.2:c.98G>C | NP_000207.2:p.Arg33Pro | |
| XM_005274501.3:c.98G>C | XP_005274558.1:p.Arg33Pro | |
| NM_000216.3:c.98G>C | NP_000207.2:p.Arg33Pro | |
| XM_005274501.4:c.98G>C | XP_005274558.1:p.Arg33Pro | |
| NM_000216.4:c.98G>C MANE Select | NP_000207.2:p.Arg33Pro |