Linked Data
ClinVar Variation Id:
760585
ClinVar RCV Id:
RCV001503228
dbSNP Id:
rs1368846781
gnomAD v2:
11-68701296-G-A
gnomAD v4:
11-68933828-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933828G>A , CM000673.2:g.68933828G>A | GRCh38 |
| NC_000011.9:g.68701296G>A , CM000673.1:g.68701296G>A | GRCh37 |
| NC_000011.8:g.68457872G>A | NCBI36 |
| NG_007976.1:g.34978G>A , LRG_250:g.34978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1452G>A MANE Select | ENSP00000255078.4:p.Thr484= | |
| ENST00000674955.1:c.*169G>A | ENSP00000502463.1:n.*169G>A | |
| ENST00000675118.1:c.940G>A | ||
| ENST00000675205.1:n.183+347G>A | ||
| ENST00000675615.1:c.1452G>A | ENSP00000502413.1:p.Thr484= | |
| ENST00000675648.1:n.827G>A | ||
| ENST00000675997.1:n.113-636G>A | ||
| ENST00000676173.1:n.2197G>A | ||
| ENST00000676228.1:c.*775G>A | ENSP00000502375.1:n.*775G>A | |
| ENST00000255078.7:c.1452G>A | ENSP00000255078.3:p.Thr484= | |
| ENST00000537458.5:n.569G>A | ||
| ENST00000539064.5:n.1211G>A | ||
| ENST00000541229.5:n.147G>A | ||
| ENST00000543739.5:n.569G>A | ||
| NM_002180.2:c.1452G>A , LRG_250t1:c.1452G>A | NP_002171.2:p.Thr484= | |
| XM_005273974.2:c.441G>A | XP_005274031.1:p.Thr147= | |
| XM_005273975.2:c.324G>A | XP_005274032.1:p.Thr108= | |
| XM_011544994.1:c.219G>A | XP_011543296.1:p.Thr73= | |
| XR_949903.1:n.1554G>A | ||
| XM_005273975.3:c.324G>A | XP_005274032.1:p.Thr108= | |
| XM_017017669.2:c.441G>A | XP_016873158.1:p.Thr147= | |
| XM_017017670.2:c.441G>A | XP_016873159.1:p.Thr147= | |
| XM_017017671.2:c.1452G>A | XP_016873160.1:p.Thr484= | |
| XR_949903.3:n.1550G>A | ||
| NM_002180.3:c.1452G>A MANE Select | NP_002171.2:p.Thr484= |