Linked Data
ClinVar Variation Id:
474888
ClinVar RCV Id:
RCV000554101
dbSNP Id:
rs759775666
ExAC:
17:7127498 G / C
gnomAD v2:
17-7127498-G-C
gnomAD v3:
17-7224179-G-C
gnomAD v4:
17-7224179-G-C
ERepo:
CA8338123/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224179G>C , CM000679.2:g.7224179G>C | GRCh38 |
| NC_000017.10:g.7127498G>C , CM000679.1:g.7127498G>C | GRCh37 |
| NC_000017.9:g.7068222G>C | NCBI36 |
| NG_007975.1:g.9346G>C | |
| NG_008391.2:g.872C>G | |
| NG_033038.1:g.15366C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1468G>C MANE Select | ENSP00000349297.5:p.Ala490Pro | |
| ENST00000322910.9:c.*1423G>C | ENSP00000325395.5:n.*1423G>C | |
| ENST00000350303.9:c.1402G>C | ENSP00000344152.5:p.Ala468Pro | |
| ENST00000356839.9:c.1468G>C | ENSP00000349297.5:p.Ala490Pro | |
| ENST00000542255.6:c.326G>C | ||
| ENST00000543245.6:c.1537G>C | ENSP00000438689.2:p.Ala513Pro | |
| ENST00000578711.1:n.675G>C | ||
| ENST00000579391.1:n.76G>C | ||
| ENST00000579425.5:n.584G>C | ||
| ENST00000579546.1:c.271+110G>C | ||
| ENST00000579894.5:n.255G>C | ||
| ENST00000583074.5:n.153+110G>C | ||
| ENST00000583850.5:n.243G>C | ||
| ENST00000583858.5:c.463+110G>C | ||
| ENST00000585203.6:n.659G>C | ||
| NM_000018.3:c.1468G>C | NP_000009.1:p.Ala490Pro | |
| NM_001033859.2:c.1402G>C | NP_001029031.1:p.Ala468Pro | |
| NM_001270447.1:c.1537G>C | NP_001257376.1:p.Ala513Pro | |
| NM_001270448.1:c.1240G>C | NP_001257377.1:p.Ala414Pro | |
| XM_006721516.2:c.1468G>C | XP_006721579.2:p.Ala490Pro | |
| XM_011523829.1:c.1434+110G>C | XP_011522131.1:n.1434+110G>C | |
| XM_011523830.1:c.1434+110G>C | XP_011522132.1:n.1434+110G>C | |
| XR_934021.1:n.1575G>C | ||
| XR_934022.1:n.1541+110G>C | ||
| XR_934023.1:n.1541+110G>C | ||
| XM_006721516.3:c.1468G>C | XP_006721579.2:p.Ala490Pro | |
| XM_011523829.2:c.1434+110G>C | XP_011522131.1:n.1434+110G>C | |
| XM_011523830.2:c.1434+110G>C | XP_011522132.1:n.1434+110G>C | |
| XM_024450741.1:c.1434+110G>C | XP_024306509.1:n.1434+110G>C | |
| XR_934021.2:n.1527G>C | ||
| XR_934022.2:n.1493+110G>C | ||
| XR_934023.2:n.1493+110G>C | ||
| NM_000018.4:c.1468G>C MANE Select | NP_000009.1:p.Ala490Pro | |
| NM_001033859.3:c.1402G>C | NP_001029031.1:p.Ala468Pro | |
| NM_001270447.2:c.1537G>C | NP_001257376.1:p.Ala513Pro | |
| NM_001270448.2:c.1240G>C | NP_001257377.1:p.Ala414Pro |