Linked Data
ClinVar Variation Id:
197022
dbSNP Id:
rs794727601
gnomAD v2:
15-48760136-T-C
gnomAD v3:
15-48467939-T-C
gnomAD v4:
15-48467939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48467939T>C , CM000677.2:g.48467939T>C | GRCh38 |
| NC_000015.9:g.48760136T>C , CM000677.1:g.48760136T>C | GRCh37 |
| NC_000015.8:g.46547428T>C | NCBI36 |
| NG_008805.2:g.182850A>G , LRG_778:g.182850A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4746A>G | ENSP00000453958.2:p.Thr1582= | |
| ENST00000674301.2:c.4746A>G | ENSP00000501333.2:p.Thr1582= | |
| ENST00000684448.1:n.3420A>G | ||
| ENST00000316623.10:c.4746A>G MANE Select | ENSP00000325527.5:p.Thr1582= | |
| ENST00000316623.9:c.4746A>G | ENSP00000325527.5:p.Thr1582= | |
| ENST00000537463.6:c.*509A>G | ENSP00000440294.2:n.*509A>G | |
| ENST00000559133.5:c.53A>G | ||
| NM_000138.4:c.4746A>G , LRG_778t1:c.4746A>G | NP_000129.3:p.Thr1582= | |
| NM_000138.5:c.4746A>G MANE Select | NP_000129.3:p.Thr1582= |