Linked Data
dbSNP Id:
rs771591964
ExAC:
12:114839600 G / A
gnomAD v2:
12-114839600-G-A
gnomAD v3:
12-114401795-G-A
gnomAD v4:
12-114401795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114401795G>A , CM000674.2:g.114401795G>A | GRCh38 |
| NC_000012.11:g.114839600G>A , CM000674.1:g.114839600G>A | GRCh37 |
| NC_000012.10:g.113323983G>A | NCBI36 |
| NG_007373.1:g.11648C>T , LRG_670:g.11648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.242+31C>T MANE Select | ENSP00000384152.3:n.242+31C>T | |
| ENST00000310346.8:c.242+31C>T | ENSP00000309913.4:n.242+31C>T | |
| ENST00000349716.9:c.92+31C>T | ENSP00000337723.5:n.92+31C>T | |
| ENST00000405440.6:c.242+31C>T | ENSP00000384152.2:n.242+31C>T | |
| ENST00000526441.1:c.242+31C>T | ENSP00000433292.1:n.242+31C>T | |
| ENST00000552726.1:n.293+31C>T | ||
| NM_000192.3:c.242+31C>T , LRG_670t1:c.242+31C>T | NP_000183.2:n.242+31C>T | |
| NM_080717.2:c.92+31C>T | NP_542448.1:n.92+31C>T | |
| NM_181486.2:c.242+31C>T | NP_852259.1:n.242+31C>T | |
| XM_017019912.1:c.290+31C>T | XP_016875401.1:n.290+31C>T | |
| NM_080717.3:c.92+31C>T | NP_542448.1:n.92+31C>T | |
| NM_181486.4:c.242+31C>T MANE Select | NP_852259.1:n.242+31C>T | |
| NM_080717.4:c.92+31C>T | NP_542448.1:n.92+31C>T |