Linked Data
ClinVar Variation Id:
403437
dbSNP Id:
rs344140
ExAC:
4:77660162 G / C
gnomAD v2:
4-77660162-G-C
gnomAD v3:
4-76739009-G-C
gnomAD v4:
4-76739009-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76739009G>C , CM000666.2:g.76739009G>C | GRCh38 |
| NC_000004.11:g.77660162G>C , CM000666.1:g.77660162G>C | GRCh37 |
| NC_000004.10:g.77879186G>C | NCBI36 |
| NG_028077.1:g.308910G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296043.7:c.836G>C MANE Select | ENSP00000296043.6:p.Gly279Ala | |
| ENST00000646790.1:c.593G>C | ENSP00000494970.1:p.Gly198Ala | |
| ENST00000296043.6:c.836G>C | ENSP00000296043.6:p.Gly279Ala | |
| ENST00000469923.5:n.414+8074G>C | ||
| ENST00000486758.5:n.645G>C | ||
| NM_020859.3:c.836G>C | NP_065910.3:p.Gly279Ala | |
| XM_005263162.3:c.836G>C | XP_005263219.1:p.Gly279Ala | |
| XM_005263163.3:c.308G>C | XP_005263220.1:p.Gly103Ala | |
| XM_005263164.3:c.308G>C | XP_005263221.1:p.Gly103Ala | |
| XM_005263165.3:c.308G>C | XP_005263222.1:p.Gly103Ala | |
| XM_006714282.2:c.731G>C | XP_006714345.1:p.Gly244Ala | |
| XM_011532157.1:c.593G>C | XP_011530459.1:p.Gly198Ala | |
| XM_011532158.1:c.839G>C | XP_011530460.1:p.Gly280Ala | |
| XM_011532159.1:c.839G>C | XP_011530461.1:p.Gly280Ala | |
| XM_011532160.1:c.461G>C | XP_011530462.1:p.Gly154Ala | |
| XM_011532161.1:c.308G>C | XP_011530463.1:p.Gly103Ala | |
| XM_005263163.4:c.308G>C | XP_005263220.1:p.Gly103Ala | |
| XM_005263164.4:c.308G>C | XP_005263221.1:p.Gly103Ala | |
| XM_005263165.5:c.308G>C | XP_005263222.1:p.Gly103Ala | |
| XM_011532157.2:c.854G>C | XP_011530459.2:p.Gly285Ala | |
| XM_011532158.3:c.839G>C | XP_011530460.1:p.Gly280Ala | |
| XM_011532161.2:c.308G>C | XP_011530463.1:p.Gly103Ala | |
| XM_017008488.1:c.734G>C | XP_016863977.1:p.Gly245Ala | |
| XM_017008489.1:c.731G>C | XP_016863978.1:p.Gly244Ala | |
| NM_020859.4:c.836G>C MANE Select | NP_065910.3:p.Gly279Ala |