Linked Data
dbSNP Id:
rs745961840
ExAC:
1:186925379 G / A
gnomAD v2:
1-186925379-G-A
gnomAD v3:
1-186956247-G-A
gnomAD v4:
1-186956247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186956247G>A , CM000663.2:g.186956247G>A | GRCh38 |
| NC_000001.10:g.186925379G>A , CM000663.1:g.186925379G>A | GRCh37 |
| NC_000001.9:g.185192002G>A | NCBI36 |
| NG_012203.1:g.132348G>A | |
| NG_012203.2:g.132348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367466.4:c.1482G>A MANE Select | ENSP00000356436.3:p.Leu494= | |
| ENST00000367466.3:c.1482G>A | ENSP00000356436.3:p.Leu494= | |
| NM_001311193.1:c.1302G>A | NP_001298122.1:p.Leu434= | |
| NM_024420.2:c.1482G>A | NP_077734.1:p.Leu494= | |
| XM_005245267.2:c.1371G>A | XP_005245324.1:p.Leu457= | |
| XM_011509641.1:c.1503G>A | XP_011507943.1:p.Leu501= | |
| XM_011509642.1:c.1482G>A | XP_011507944.1:p.Leu494= | |
| XM_011509643.1:c.1482G>A | XP_011507945.1:p.Leu494= | |
| XR_921838.1:n.1477+66G>A | ||
| XM_005245267.4:c.1497G>A | XP_005245324.2:p.Leu499= | |
| XM_011509642.2:c.1482G>A | XP_011507944.1:p.Leu494= | |
| NM_001311193.2:c.1302G>A | NP_001298122.2:p.Leu434= | |
| NM_024420.3:c.1482G>A MANE Select | NP_077734.2:p.Leu494= |