Linked Data
ClinVar Variation Id:
932807
ClinVar RCV Id:
RCV001200756
dbSNP Id:
rs745355288
ExAC:
17:7127016 G / C
gnomAD v2:
17-7127016-G-C
gnomAD v4:
17-7223697-G-C
COSMIC:
COSM88497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223697G>C , CM000679.2:g.7223697G>C | GRCh38 |
| NC_000017.10:g.7127016G>C , CM000679.1:g.7127016G>C | GRCh37 |
| NC_000017.9:g.7067740G>C | NCBI36 |
| NG_007975.1:g.8864G>C | |
| NG_008391.2:g.1354C>G | |
| NG_033038.1:g.15848C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1236G>C MANE Select | ENSP00000349297.5:p.Gln412His | |
| ENST00000322910.9:c.*1191G>C | ENSP00000325395.5:n.*1191G>C | |
| ENST00000350303.9:c.1170G>C | ENSP00000344152.5:p.Gln390His | |
| ENST00000356839.9:c.1236G>C | ENSP00000349297.5:p.Gln412His | |
| ENST00000542255.6:c.94G>C | ||
| ENST00000543245.6:c.1305G>C | ENSP00000438689.2:p.Gln435His | |
| ENST00000578579.2:n.407G>C | ||
| ENST00000578711.1:n.193G>C | ||
| ENST00000578824.5:n.652G>C | ||
| ENST00000579425.5:n.260G>C | ||
| ENST00000579546.1:c.73G>C | ||
| ENST00000583850.5:n.11G>C | ||
| ENST00000583858.5:c.265G>C | ||
| ENST00000585203.6:n.444G>C | ||
| NM_000018.3:c.1236G>C | NP_000009.1:p.Gln412His | |
| NM_001033859.2:c.1170G>C | NP_001029031.1:p.Gln390His | |
| NM_001270447.1:c.1305G>C | NP_001257376.1:p.Gln435His | |
| NM_001270448.1:c.1008G>C | NP_001257377.1:p.Gln336His | |
| XM_006721516.2:c.1236G>C | XP_006721579.2:p.Gln412His | |
| XM_011523829.1:c.1236G>C | XP_011522131.1:p.Gln412His | |
| XM_011523830.1:c.1236G>C | XP_011522132.1:p.Gln412His | |
| XR_934021.1:n.1343G>C | ||
| XR_934022.1:n.1343G>C | ||
| XR_934023.1:n.1343G>C | ||
| XM_006721516.3:c.1236G>C | XP_006721579.2:p.Gln412His | |
| XM_011523829.2:c.1236G>C | XP_011522131.1:p.Gln412His | |
| XM_011523830.2:c.1236G>C | XP_011522132.1:p.Gln412His | |
| XM_024450741.1:c.1236G>C | XP_024306509.1:p.Gln412His | |
| XR_934021.2:n.1295G>C | ||
| XR_934022.2:n.1295G>C | ||
| XR_934023.2:n.1295G>C | ||
| NM_000018.4:c.1236G>C MANE Select | NP_000009.1:p.Gln412His | |
| NM_001033859.3:c.1170G>C | NP_001029031.1:p.Gln390His | |
| NM_001270447.2:c.1305G>C | NP_001257376.1:p.Gln435His | |
| NM_001270448.2:c.1008G>C | NP_001257377.1:p.Gln336His |