Linked Data
dbSNP Id:
rs765317619
ExAC:
11:57373682 G / A
gnomAD v2:
11-57373682-G-A
gnomAD v4:
11-57606209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57606209G>A , CM000673.2:g.57606209G>A | GRCh38 |
| NC_000011.9:g.57373682G>A , CM000673.1:g.57373682G>A | GRCh37 |
| NC_000011.8:g.57130258G>A | NCBI36 |
| NG_009625.1:g.13656G>A , LRG_105:g.13656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.885G>A MANE Select | ENSP00000278407.4:p.Leu295= | |
| ENST00000528996.2:c.59-5517G>A | ENSP00000431226.2:n.59-5517G>A | |
| ENST00000531605.2:c.*661G>A | ENSP00000503752.1:n.*661G>A | |
| ENST00000619430.2:c.686-199G>A | ENSP00000478572.2:n.686-199G>A | |
| ENST00000676670.1:c.885G>A | ENSP00000504807.1:p.Leu295= | |
| ENST00000676741.1:n.1967G>A | ||
| ENST00000677624.1:c.*305G>A | ENSP00000503979.1:n.*305G>A | |
| ENST00000677625.1:c.885G>A | ENSP00000502857.1:p.Leu295= | |
| ENST00000677856.1:n.944G>A | ||
| ENST00000677915.1:c.685+4040G>A | ENSP00000503118.1:n.685+4040G>A | |
| ENST00000678533.1:c.*439G>A | ENSP00000503873.1:n.*439G>A | |
| ENST00000678592.1:c.885G>A | ENSP00000504424.1:p.Leu295= | |
| ENST00000278407.8:c.885G>A | ENSP00000278407.4:p.Leu295= | |
| ENST00000340687.10:c.885G>A | ENSP00000341861.6:p.Leu295= | |
| ENST00000378323.8:c.900G>A | ENSP00000367574.4:p.Leu300= | |
| ENST00000378324.6:c.729G>A | ENSP00000367575.2:p.Leu243= | |
| ENST00000403558.1:c.987G>A | ENSP00000384420.1:p.Leu329= | |
| ENST00000531133.5:c.386G>A | ENSP00000435431.1:n.386G>A | |
| ENST00000531797.5:c.*54+4040G>A | ENSP00000432554.1:n.*54+4040G>A | |
| ENST00000619430.1:c.349-5696G>A | ENSP00000478572.1:n.349-5696G>A | |
| NM_000062.2:c.885G>A , LRG_105t1:c.885G>A | NP_000053.2:p.Leu295= | |
| NM_001032295.1:c.885G>A | NP_001027466.1:p.Leu295= | |
| NM_000062.3:c.885G>A MANE Select | NP_000053.2:p.Leu295= | |
| NM_001032295.2:c.885G>A | NP_001027466.1:p.Leu295= |