Linked Data
dbSNP Id:
rs761601555
ExAC:
11:57382082 G / A
gnomAD v2:
11-57382082-G-A
gnomAD v4:
11-57614609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614609G>A , CM000673.2:g.57614609G>A | GRCh38 |
| NC_000011.9:g.57382082G>A , CM000673.1:g.57382082G>A | GRCh37 |
| NC_000011.8:g.57138658G>A | NCBI36 |
| NG_009625.1:g.22056G>A , LRG_105:g.22056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.*28G>A MANE Select | ENSP00000278407.4:n.*28G>A | |
| ENST00000528996.2:c.*428G>A | ENSP00000431226.2:n.*428G>A | |
| ENST00000531605.2:c.*1307G>A | ENSP00000503752.1:n.*1307G>A | |
| ENST00000619430.2:c.*28G>A | ENSP00000478572.2:n.*28G>A | |
| ENST00000676670.1:c.*15+13G>A | ENSP00000504807.1:n.*15+13G>A | |
| ENST00000676741.1:n.2613G>A | ||
| ENST00000677624.1:c.*951G>A | ENSP00000503979.1:n.*951G>A | |
| ENST00000677625.1:c.*28G>A | ENSP00000502857.1:n.*28G>A | |
| ENST00000677856.1:n.1784G>A | ||
| ENST00000677915.1:c.*428G>A | ENSP00000503118.1:n.*428G>A | |
| ENST00000678533.1:c.*1072+13G>A | ENSP00000503873.1:n.*1072+13G>A | |
| ENST00000678592.1:c.*471G>A | ENSP00000504424.1:n.*471G>A | |
| ENST00000278407.8:c.*28G>A | ENSP00000278407.4:n.*28G>A | |
| ENST00000340687.10:c.*28G>A | ENSP00000341861.6:n.*28G>A | |
| ENST00000378323.8:c.*28G>A | ENSP00000367574.4:n.*28G>A | |
| ENST00000378324.6:c.*28G>A | ENSP00000367575.2:n.*28G>A | |
| ENST00000403558.1:c.*28G>A | ENSP00000384420.1:n.*28G>A | |
| ENST00000528996.1:c.732G>A | ENSP00000431226.1:n.732G>A | |
| ENST00000531797.5:c.*556G>A | ENSP00000432554.1:n.*556G>A | |
| NM_000062.2:c.*28G>A , LRG_105t1:c.*28G>A | NP_000053.2:n.*28G>A | |
| NM_001032295.1:c.*28G>A | NP_001027466.1:n.*28G>A | |
| NM_000062.3:c.*28G>A MANE Select | NP_000053.2:n.*28G>A | |
| NM_001032295.2:c.*28G>A | NP_001027466.1:n.*28G>A |