Linked Data
ClinVar Variation Id:
129149
dbSNP Id:
rs4834
ExAC:
X:153667176 T / C
gnomAD v2:
X-153667176-T-C
gnomAD v3:
X-154438830-T-C
gnomAD v4:
X-154438830-T-C
COSMIC:
COSM5653588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154438830T>C , CM000685.2:g.154438830T>C | GRCh38 |
| NC_000023.10:g.153667176T>C , CM000685.1:g.153667176T>C | GRCh37 |
| NC_000023.9:g.153320370T>C | NCBI36 |
| NG_008954.1:g.6918T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447750.7:c.219T>C MANE Select | ENSP00000394071.2:p.Asn73= | |
| ENST00000415109.5:c.*249T>C | ENSP00000396215.1:n.*249T>C | |
| ENST00000434049.1:c.219T>C | ENSP00000416195.1:p.Asn73= | |
| ENST00000445564.5:c.*143T>C | ENSP00000394752.1:n.*143T>C | |
| ENST00000447750.6:c.219T>C | ENSP00000394071.2:p.Asn73= | |
| ENST00000475976.5:n.320T>C | ||
| ENST00000481304.5:n.285T>C | ||
| ENST00000485143.5:n.457T>C | ||
| ENST00000491154.1:n.691T>C | ||
| ENST00000630693.2:c.219T>C | ENSP00000486715.1:p.Asn73= | |
| NM_001493.2:c.219T>C | NP_001484.1:p.Asn73= | |
| NM_001493.3:c.219T>C MANE Select | NP_001484.1:p.Asn73= |