Linked Data
ClinVar Variation Id:
692202
dbSNP Id:
rs4252125
ExAC:
6:161152240 G / A
gnomAD v2:
6-161152240-G-A
gnomAD v3:
6-160731208-G-A
gnomAD v4:
6-160731208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160731208G>A , CM000668.2:g.160731208G>A | GRCh38 |
| NC_000006.11:g.161152240G>A , CM000668.1:g.161152240G>A | GRCh37 |
| NC_000006.10:g.161072230G>A | NCBI36 |
| NG_016200.1:g.34016G>A , LRG_571:g.34016G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297289.9:c.367G>A | ENSP00000516619.1:p.Asp123Asn | |
| ENST00000418964.2:c.1465G>A | ENSP00000389424.2:p.Asp489Asn | |
| ENST00000706906.1:c.1414G>A | ENSP00000516618.1:p.Asp472Asn | |
| ENST00000308192.14:c.1414G>A MANE Select | ENSP00000308938.9:p.Asp472Asn | |
| ENST00000297289.8:n.412G>A | ||
| ENST00000308192.13:c.1414G>A | ENSP00000308938.9:p.Asp472Asn | |
| ENST00000493435.1:n.469G>A | ||
| NM_000301.3:c.1414G>A , LRG_571t1:c.1414G>A | NP_000292.1:p.Asp472Asn | |
| NM_000301.4:c.1414G>A | NP_000292.1:p.Asp472Asn | |
| NM_000301.5:c.1414G>A MANE Select | NP_000292.1:p.Asp472Asn |