Linked Data
dbSNP Id:
rs755506811
ExAC:
11:57381979 C / G
gnomAD v2:
11-57381979-C-G
gnomAD v4:
11-57614506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614506C>G , CM000673.2:g.57614506C>G | GRCh38 |
| NC_000011.9:g.57381979C>G , CM000673.1:g.57381979C>G | GRCh37 |
| NC_000011.8:g.57138555C>G | NCBI36 |
| NG_009625.1:g.21953C>G , LRG_105:g.21953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1428C>G MANE Select | ENSP00000278407.4:p.Pro476= | |
| ENST00000528996.2:c.*325C>G | ENSP00000431226.2:n.*325C>G | |
| ENST00000531605.2:c.*1204C>G | ENSP00000503752.1:n.*1204C>G | |
| ENST00000619430.2:c.1224C>G | ENSP00000478572.2:p.Pro408= | |
| ENST00000676670.1:c.1428C>G | ENSP00000504807.1:p.Pro476= | |
| ENST00000676741.1:n.2510C>G | ||
| ENST00000677624.1:c.*848C>G | ENSP00000503979.1:n.*848C>G | |
| ENST00000677625.1:c.1374C>G | ENSP00000502857.1:p.Pro458= | |
| ENST00000677856.1:n.1681C>G | ||
| ENST00000677915.1:c.*325C>G | ENSP00000503118.1:n.*325C>G | |
| ENST00000678533.1:c.*982C>G | ENSP00000503873.1:n.*982C>G | |
| ENST00000678592.1:c.*368C>G | ENSP00000504424.1:n.*368C>G | |
| ENST00000278407.8:c.1428C>G | ENSP00000278407.4:p.Pro476= | |
| ENST00000340687.10:c.1317C>G | ENSP00000341861.6:p.Pro439= | |
| ENST00000378323.8:c.1443C>G | ENSP00000367574.4:p.Pro481= | |
| ENST00000378324.6:c.1272C>G | ENSP00000367575.2:p.Pro424= | |
| ENST00000403558.1:c.1557C>G | ENSP00000384420.1:p.Pro519= | |
| ENST00000528996.1:c.629C>G | ENSP00000431226.1:n.629C>G | |
| ENST00000530113.1:n.885C>G | ||
| ENST00000531133.5:c.929C>G | ENSP00000435431.1:n.929C>G | |
| ENST00000531797.5:c.*453C>G | ENSP00000432554.1:n.*453C>G | |
| ENST00000619430.1:c.559C>G | ENSP00000478572.1:n.559C>G | |
| NM_000062.2:c.1428C>G , LRG_105t1:c.1428C>G | NP_000053.2:p.Pro476= | |
| NM_001032295.1:c.1428C>G | NP_001027466.1:p.Pro476= | |
| NM_000062.3:c.1428C>G MANE Select | NP_000053.2:p.Pro476= | |
| NM_001032295.2:c.1428C>G | NP_001027466.1:p.Pro476= |