Linked Data
dbSNP Id:
rs780052213
ExAC:
11:57382060 G / A
gnomAD v2:
11-57382060-G-A
gnomAD v4:
11-57614587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614587G>A , CM000673.2:g.57614587G>A | GRCh38 |
| NC_000011.9:g.57382060G>A , CM000673.1:g.57382060G>A | GRCh37 |
| NC_000011.8:g.57138636G>A | NCBI36 |
| NG_009625.1:g.22034G>A , LRG_105:g.22034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.*6G>A MANE Select | ENSP00000278407.4:n.*6G>A | |
| ENST00000528996.2:c.*406G>A | ENSP00000431226.2:n.*406G>A | |
| ENST00000531605.2:c.*1285G>A | ENSP00000503752.1:n.*1285G>A | |
| ENST00000619430.2:c.*6G>A | ENSP00000478572.2:n.*6G>A | |
| ENST00000676670.1:c.*6G>A | ENSP00000504807.1:n.*6G>A | |
| ENST00000676741.1:n.2591G>A | ||
| ENST00000677624.1:c.*929G>A | ENSP00000503979.1:n.*929G>A | |
| ENST00000677625.1:c.*6G>A | ENSP00000502857.1:n.*6G>A | |
| ENST00000677856.1:n.1762G>A | ||
| ENST00000677915.1:c.*406G>A | ENSP00000503118.1:n.*406G>A | |
| ENST00000678533.1:c.*1063G>A | ENSP00000503873.1:n.*1063G>A | |
| ENST00000678592.1:c.*449G>A | ENSP00000504424.1:n.*449G>A | |
| ENST00000278407.8:c.*6G>A | ENSP00000278407.4:n.*6G>A | |
| ENST00000340687.10:c.*6G>A | ENSP00000341861.6:n.*6G>A | |
| ENST00000378323.8:c.*6G>A | ENSP00000367574.4:n.*6G>A | |
| ENST00000378324.6:c.*6G>A | ENSP00000367575.2:n.*6G>A | |
| ENST00000403558.1:c.*6G>A | ENSP00000384420.1:n.*6G>A | |
| ENST00000528996.1:c.710G>A | ENSP00000431226.1:n.710G>A | |
| ENST00000531797.5:c.*534G>A | ENSP00000432554.1:n.*534G>A | |
| NM_000062.2:c.*6G>A , LRG_105t1:c.*6G>A | NP_000053.2:n.*6G>A | |
| NM_001032295.1:c.*6G>A | NP_001027466.1:n.*6G>A | |
| NM_000062.3:c.*6G>A MANE Select | NP_000053.2:n.*6G>A | |
| NM_001032295.2:c.*6G>A | NP_001027466.1:n.*6G>A |