Linked Data
ClinVar Variation Id:
1369423
ClinVar RCV Id:
RCV001870622
dbSNP Id:
rs1256129137
gnomAD v2:
17-7127866-T-C
gnomAD v4:
17-7224547-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224547T>C , CM000679.2:g.7224547T>C | GRCh38 |
| NC_000017.10:g.7127866T>C , CM000679.1:g.7127866T>C | GRCh37 |
| NC_000017.9:g.7068590T>C | NCBI36 |
| NG_007975.1:g.9714T>C | |
| NG_008391.2:g.504A>G | |
| NG_033038.1:g.14998A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1673T>C MANE Select | ENSP00000349297.5:p.Ile558Thr | |
| ENST00000322910.9:c.*1628T>C | ENSP00000325395.5:n.*1628T>C | |
| ENST00000350303.9:c.1607T>C | ENSP00000344152.5:p.Ile536Thr | |
| ENST00000356839.9:c.1673T>C | ENSP00000349297.5:p.Ile558Thr | |
| ENST00000542255.6:c.531T>C | ||
| ENST00000543245.6:c.1742T>C | ENSP00000438689.2:p.Ile581Thr | |
| ENST00000578319.5:n.254T>C | ||
| ENST00000578711.1:n.1043T>C | ||
| ENST00000578809.5:n.245T>C | ||
| ENST00000579391.1:n.277T>C | ||
| ENST00000579425.5:n.789T>C | ||
| ENST00000579546.1:c.408T>C | ||
| ENST00000582450.1:n.181T>C | ||
| ENST00000583074.5:n.294T>C | ||
| ENST00000583848.5:c.59T>C | ENSP00000466487.1:p.Ile20Thr | |
| ENST00000583850.5:n.444T>C | ||
| ENST00000583858.5:c.604T>C | ||
| ENST00000585203.6:n.864T>C | ||
| NM_000018.3:c.1673T>C | NP_000009.1:p.Ile558Thr | |
| NM_001033859.2:c.1607T>C | NP_001029031.1:p.Ile536Thr | |
| NM_001270447.1:c.1742T>C | NP_001257376.1:p.Ile581Thr | |
| NM_001270448.1:c.1445T>C | NP_001257377.1:p.Ile482Thr | |
| XM_006721516.2:c.1673T>C | XP_006721579.2:p.Ile558Thr | |
| XM_011523829.1:c.1571T>C | XP_011522131.1:p.Ile524Thr | |
| XM_011523830.1:c.1571T>C | XP_011522132.1:p.Ile524Thr | |
| XR_934021.1:n.1776T>C | ||
| XR_934022.1:n.1682T>C | ||
| XR_934023.1:n.1682T>C | ||
| XM_006721516.3:c.1673T>C | XP_006721579.2:p.Ile558Thr | |
| XM_011523829.2:c.1571T>C | XP_011522131.1:p.Ile524Thr | |
| XM_011523830.2:c.1571T>C | XP_011522132.1:p.Ile524Thr | |
| XM_024450741.1:c.1661T>C | XP_024306509.1:p.Ile554Thr | |
| XR_934021.2:n.1728T>C | ||
| XR_934022.2:n.1634T>C | ||
| XR_934023.2:n.1634T>C | ||
| NM_000018.4:c.1673T>C MANE Select | NP_000009.1:p.Ile558Thr | |
| NM_001033859.3:c.1607T>C | NP_001029031.1:p.Ile536Thr | |
| NM_001270447.2:c.1742T>C | NP_001257376.1:p.Ile581Thr | |
| NM_001270448.2:c.1445T>C | NP_001257377.1:p.Ile482Thr |