Linked Data
ClinVar Variation Id:
137314
ClinVar RCV Id:
RCV000154417
RCV000347453
RCV000348609
RCV000253616
RCV000313423
RCV000382318
RCV000659501
RCV000756133
RCV001725986
RCV000293746
RCV000407439
dbSNP Id:
rs25388
ExAC:
15:48902965 G / A
gnomAD v2:
15-48902965-G-A
gnomAD v3:
15-48610768-G-A
gnomAD v4:
15-48610768-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48610768G>A , CM000677.2:g.48610768G>A | GRCh38 |
| NC_000015.9:g.48902965G>A , CM000677.1:g.48902965G>A | GRCh37 |
| NC_000015.8:g.46690257G>A | NCBI36 |
| NG_008805.2:g.40021C>T , LRG_778:g.40021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.306C>T | ENSP00000453958.2:p.Cys102= | |
| ENST00000674301.2:c.306C>T | ENSP00000501333.2:p.Cys102= | |
| ENST00000316623.10:c.306C>T MANE Select | ENSP00000325527.5:p.Cys102= | |
| ENST00000316623.9:c.306C>T | ENSP00000325527.5:p.Cys102= | |
| ENST00000537463.6:c.306C>T | ENSP00000440294.2:p.Cys102= | |
| NM_000138.4:c.306C>T , LRG_778t1:c.306C>T | NP_000129.3:p.Cys102= | |
| NM_000138.5:c.306C>T MANE Select | NP_000129.3:p.Cys102= |