Linked Data
ClinVar Variation Id:
203574
dbSNP Id:
rs150149784
ExAC:
17:7125561 G / C
gnomAD v2:
17-7125561-G-C
gnomAD v3:
17-7222242-G-C
gnomAD v4:
17-7222242-G-C
ERepo:
CA312255/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222242G>C , CM000679.2:g.7222242G>C | GRCh38 |
| NC_000017.10:g.7125561G>C , CM000679.1:g.7125561G>C | GRCh37 |
| NC_000017.9:g.7066285G>C | NCBI36 |
| NG_007975.1:g.7409G>C | |
| NG_008391.2:g.2809C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.818G>C MANE Select | ENSP00000349297.5:p.Gly273Ala | |
| ENST00000322910.9:c.*773G>C | ENSP00000325395.5:n.*773G>C | |
| ENST00000350303.9:c.752G>C | ENSP00000344152.5:p.Gly251Ala | |
| ENST00000356839.9:c.818G>C | ENSP00000349297.5:p.Gly273Ala | |
| ENST00000543245.6:c.887G>C | ENSP00000438689.2:p.Gly296Ala | |
| ENST00000577191.5:n.990G>C | ||
| ENST00000581378.5:c.536G>C | ||
| ENST00000582379.1:n.202G>C | ||
| NM_000018.3:c.818G>C | NP_000009.1:p.Gly273Ala | |
| NM_001033859.2:c.752G>C | NP_001029031.1:p.Gly251Ala | |
| NM_001270447.1:c.887G>C | NP_001257376.1:p.Gly296Ala | |
| NM_001270448.1:c.590G>C | NP_001257377.1:p.Gly197Ala | |
| XM_006721516.2:c.818G>C | XP_006721579.2:p.Gly273Ala | |
| XM_011523829.1:c.818G>C | XP_011522131.1:p.Gly273Ala | |
| XM_011523830.1:c.818G>C | XP_011522132.1:p.Gly273Ala | |
| XR_934021.1:n.925G>C | ||
| XR_934022.1:n.925G>C | ||
| XR_934023.1:n.925G>C | ||
| XM_006721516.3:c.818G>C | XP_006721579.2:p.Gly273Ala | |
| XM_011523829.2:c.818G>C | XP_011522131.1:p.Gly273Ala | |
| XM_011523830.2:c.818G>C | XP_011522132.1:p.Gly273Ala | |
| XM_024450741.1:c.818G>C | XP_024306509.1:p.Gly273Ala | |
| XR_934021.2:n.877G>C | ||
| XR_934022.2:n.877G>C | ||
| XR_934023.2:n.877G>C | ||
| NM_000018.4:c.818G>C MANE Select | NP_000009.1:p.Gly273Ala | |
| NM_001033859.3:c.752G>C | NP_001029031.1:p.Gly251Ala | |
| NM_001270447.2:c.887G>C | NP_001257376.1:p.Gly296Ala | |
| NM_001270448.2:c.590G>C | NP_001257377.1:p.Gly197Ala |