Linked Data
ClinVar Variation Id:
594988
dbSNP Id:
rs373094778
ExAC:
18:21128032 G / A
gnomAD v2:
18-21128032-G-A
gnomAD v3:
18-23548068-G-A
gnomAD v4:
18-23548068-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23548068G>A , CM000680.2:g.23548068G>A | GRCh38 |
| NC_000018.9:g.21128032G>A , CM000680.1:g.21128032G>A | GRCh37 |
| NC_000018.8:g.19382030G>A | NCBI36 |
| NG_012795.1:g.43550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1695C>T MANE Select | ENSP00000269228.4:p.Phe565= | |
| ENST00000269228.9:c.1695C>T | ENSP00000269228.4:p.Phe565= | |
| ENST00000540608.5:n.1609C>T | ||
| ENST00000591051.1:c.836-2919C>T | ||
| NM_000271.4:c.1695C>T | NP_000262.2:p.Phe565= | |
| XM_005258277.1:c.1746C>T | XP_005258334.1:p.Phe582= | |
| XM_005258278.3:c.1746C>T | XP_005258335.1:p.Phe582= | |
| XM_005258279.1:c.1695C>T | XP_005258336.1:p.Phe565= | |
| XM_006722479.2:c.1746C>T | XP_006722542.1:p.Phe582= | |
| XM_011526015.1:c.1281C>T | XP_011524317.1:p.Phe427= | |
| XM_005258278.5:c.1746C>T | XP_005258335.1:p.Phe582= | |
| XM_005258279.2:c.1695C>T | XP_005258336.1:p.Phe565= | |
| XM_006722479.3:c.1746C>T | XP_006722542.1:p.Phe582= | |
| XM_017025784.1:c.1746C>T | XP_016881273.1:p.Phe582= | |
| XM_017025785.1:c.1746C>T | XP_016881274.1:p.Phe582= | |
| XM_017025786.1:c.1695C>T | XP_016881275.1:p.Phe565= | |
| XM_017025787.1:c.1695C>T | XP_016881276.1:p.Phe565= | |
| NM_000271.5:c.1695C>T MANE Select | NP_000262.2:p.Phe565= |