Linked Data
ClinVar Variation Id:
349710
dbSNP Id:
rs376487875
ExAC:
4:79328868 G / C
gnomAD v2:
4-79328868-G-C
gnomAD v3:
4-78407714-G-C
gnomAD v4:
4-78407714-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78407714G>C , CM000666.2:g.78407714G>C | GRCh38 |
| NC_000004.11:g.79328868G>C , CM000666.1:g.79328868G>C | GRCh37 |
| NC_000004.10:g.79547892G>C | NCBI36 |
| NG_015812.1:g.355145G>C | |
| NG_015812.2:g.355145G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.4181G>C | ENSP00000326330.6:p.Gly1394Ala | |
| ENST00000682513.1:c.4181G>C | ENSP00000508201.1:p.Gly1394Ala | |
| ENST00000684159.1:c.4181G>C | ENSP00000506875.1:p.Gly1394Ala | |
| ENST00000512123.4:c.4181G>C MANE Select | ENSP00000422834.2:p.Gly1394Ala | |
| ENST00000264899.10:c.845-36389G>C | ENSP00000264899.7:n.845-36389G>C | |
| ENST00000325942.10:c.4181G>C | ENSP00000326330.6:p.Gly1394Ala | |
| ENST00000512123.3:c.4181G>C | ENSP00000422834.2:p.Gly1394Ala | |
| NM_001166133.1:c.4181G>C | NP_001159605.1:p.Gly1394Ala | |
| NM_025074.6:c.4181G>C | NP_079350.5:p.Gly1394Ala | |
| XM_006714314.1:c.4181G>C | XP_006714377.1:p.Gly1394Ala | |
| XM_006714316.1:c.4181G>C | XP_006714379.1:p.Gly1394Ala | |
| XM_011532270.1:c.1880G>C | XP_011530572.1:p.Gly627Ala | |
| XM_006714316.3:c.4181G>C | XP_006714379.1:p.Gly1394Ala | |
| NM_025074.7:c.4181G>C MANE Select | NP_079350.5:p.Gly1394Ala | |
| NM_001166133.2:c.4181G>C | NP_001159605.1:p.Gly1394Ala |