Linked Data
ClinVar Variation Id:
2680183
ClinVar RCV Id:
RCV003474375
dbSNP Id:
rs775980475
ExAC:
17:7127018 T / C
gnomAD v2:
17-7127018-T-C
gnomAD v4:
17-7223699-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223699T>C , CM000679.2:g.7223699T>C | GRCh38 |
| NC_000017.10:g.7127018T>C , CM000679.1:g.7127018T>C | GRCh37 |
| NC_000017.9:g.7067742T>C | NCBI36 |
| NG_007975.1:g.8866T>C | |
| NG_008391.2:g.1352A>G | |
| NG_033038.1:g.15846A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1238T>C MANE Select | ENSP00000349297.5:p.Ile413Thr | |
| ENST00000322910.9:c.*1193T>C | ENSP00000325395.5:n.*1193T>C | |
| ENST00000350303.9:c.1172T>C | ENSP00000344152.5:p.Ile391Thr | |
| ENST00000356839.9:c.1238T>C | ENSP00000349297.5:p.Ile413Thr | |
| ENST00000542255.6:c.96T>C | ||
| ENST00000543245.6:c.1307T>C | ENSP00000438689.2:p.Ile436Thr | |
| ENST00000578579.2:n.409T>C | ||
| ENST00000578711.1:n.195T>C | ||
| ENST00000578824.5:n.654T>C | ||
| ENST00000579425.5:n.262T>C | ||
| ENST00000579546.1:c.75T>C | ||
| ENST00000583850.5:n.13T>C | ||
| ENST00000583858.5:c.267T>C | ||
| ENST00000585203.6:n.446T>C | ||
| NM_000018.3:c.1238T>C | NP_000009.1:p.Ile413Thr | |
| NM_001033859.2:c.1172T>C | NP_001029031.1:p.Ile391Thr | |
| NM_001270447.1:c.1307T>C | NP_001257376.1:p.Ile436Thr | |
| NM_001270448.1:c.1010T>C | NP_001257377.1:p.Ile337Thr | |
| XM_006721516.2:c.1238T>C | XP_006721579.2:p.Ile413Thr | |
| XM_011523829.1:c.1238T>C | XP_011522131.1:p.Ile413Thr | |
| XM_011523830.1:c.1238T>C | XP_011522132.1:p.Ile413Thr | |
| XR_934021.1:n.1345T>C | ||
| XR_934022.1:n.1345T>C | ||
| XR_934023.1:n.1345T>C | ||
| XM_006721516.3:c.1238T>C | XP_006721579.2:p.Ile413Thr | |
| XM_011523829.2:c.1238T>C | XP_011522131.1:p.Ile413Thr | |
| XM_011523830.2:c.1238T>C | XP_011522132.1:p.Ile413Thr | |
| XM_024450741.1:c.1238T>C | XP_024306509.1:p.Ile413Thr | |
| XR_934021.2:n.1297T>C | ||
| XR_934022.2:n.1297T>C | ||
| XR_934023.2:n.1297T>C | ||
| NM_000018.4:c.1238T>C MANE Select | NP_000009.1:p.Ile413Thr | |
| NM_001033859.3:c.1172T>C | NP_001029031.1:p.Ile391Thr | |
| NM_001270447.2:c.1307T>C | NP_001257376.1:p.Ile436Thr | |
| NM_001270448.2:c.1010T>C | NP_001257377.1:p.Ile337Thr |