Linked Data
dbSNP Id:
rs772733582
ExAC:
21:16340294 G / C
gnomAD v3:
21-14967973-G-C
gnomAD v4:
21-14967973-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.14967973G>C , CM000683.2:g.14967973G>C | GRCh38 |
| NC_000021.8:g.16340294G>C , CM000683.1:g.16340294G>C | GRCh37 |
| NC_000021.7:g.15262165G>C | NCBI36 |
| NG_050643.1:g.102931C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318948.7:c.220C>G MANE Select | ENSP00000327213.4:p.Gln74Glu | |
| ENST00000318948.6:c.220C>G | ENSP00000327213.4:p.Gln74Glu | |
| ENST00000400199.5:c.220C>G | ENSP00000383060.1:p.Gln74Glu | |
| ENST00000400202.5:c.220C>G | ENSP00000383063.1:p.Gln74Glu | |
| NM_003489.3:c.220C>G | NP_003480.2:p.Gln74Glu | |
| XM_005261063.2:c.220C>G | XP_005261120.1:p.Gln74Glu | |
| XM_005261065.2:c.220C>G | XP_005261122.1:p.Gln74Glu | |
| XM_011529747.1:c.220C>G | XP_011528049.1:p.Gln74Glu | |
| XM_011529748.1:c.220C>G | XP_011528050.1:p.Gln74Glu | |
| XM_011529749.1:c.220C>G | XP_011528051.1:p.Gln74Glu | |
| XM_011529750.1:c.220C>G | XP_011528052.1:p.Gln74Glu | |
| XM_011529751.1:c.220C>G | XP_011528053.1:p.Gln74Glu | |
| XM_011529752.1:c.220C>G | XP_011528054.1:p.Gln74Glu | |
| XM_005261063.3:c.220C>G | XP_005261120.1:p.Gln74Glu | |
| XM_005261065.3:c.220C>G | XP_005261122.1:p.Gln74Glu | |
| XM_011529748.2:c.220C>G | XP_011528050.1:p.Gln74Glu | |
| XM_011529749.2:c.220C>G | XP_011528051.1:p.Gln74Glu | |
| XM_011529751.2:c.220C>G | XP_011528053.1:p.Gln74Glu | |
| XM_017028473.1:c.220C>G | XP_016883962.1:p.Gln74Glu | |
| XM_017028474.1:c.220C>G | XP_016883963.1:p.Gln74Glu | |
| XM_017028475.1:c.220C>G | XP_016883964.1:p.Gln74Glu | |
| XM_017028476.1:c.220C>G | XP_016883965.1:p.Gln74Glu | |
| NM_003489.4:c.220C>G MANE Select | NP_003480.2:p.Gln74Glu |