Linked Data
ClinVar Variation Id:
838560
ClinVar RCV Id:
RCV001040133
dbSNP Id:
rs769307676
ExAC:
15:48782181 G / T
gnomAD v2:
15-48782181-G-T
gnomAD v4:
15-48489984-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48489984G>T , CM000677.2:g.48489984G>T | GRCh38 |
| NC_000015.9:g.48782181G>T , CM000677.1:g.48782181G>T | GRCh37 |
| NC_000015.8:g.46569473G>T | NCBI36 |
| NG_008805.2:g.160805C>A , LRG_778:g.160805C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2949C>A | ENSP00000453958.2:p.Ser983= | |
| ENST00000674301.2:c.2949C>A | ENSP00000501333.2:p.Ser983= | |
| ENST00000684448.1:n.1623C>A | ||
| ENST00000316623.10:c.2949C>A MANE Select | ENSP00000325527.5:p.Ser983= | |
| ENST00000316623.9:c.2949C>A | ENSP00000325527.5:p.Ser983= | |
| ENST00000537463.6:c.637-15334C>A | ENSP00000440294.2:n.637-15334C>A | |
| NM_000138.4:c.2949C>A , LRG_778t1:c.2949C>A | NP_000129.3:p.Ser983= | |
| NM_000138.5:c.2949C>A MANE Select | NP_000129.3:p.Ser983= |