Linked Data
ClinVar Variation Id:
2122879
ClinVar RCV Id:
RCV003047085
MyVariant Identifiers:
chr17:g.7127031C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223712C>T , CM000679.2:g.7223712C>T | GRCh38 |
| NC_000017.10:g.7127031C>T , CM000679.1:g.7127031C>T | GRCh37 |
| NC_000017.9:g.7067755C>T | NCBI36 |
| NG_007975.1:g.8879C>T | |
| NG_008391.2:g.1339G>A | |
| NG_033038.1:g.15833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1251C>T MANE Select | ENSP00000349297.5:p.Ile417= | |
| ENST00000322910.9:c.*1206C>T | ENSP00000325395.5:n.*1206C>T | |
| ENST00000350303.9:c.1185C>T | ENSP00000344152.5:p.Ile395= | |
| ENST00000356839.9:c.1251C>T | ENSP00000349297.5:p.Ile417= | |
| ENST00000542255.6:c.109C>T | ||
| ENST00000543245.6:c.1320C>T | ENSP00000438689.2:p.Ile440= | |
| ENST00000578579.2:n.422C>T | ||
| ENST00000578711.1:n.208C>T | ||
| ENST00000578824.5:n.667C>T | ||
| ENST00000579425.5:n.275C>T | ||
| ENST00000579546.1:c.88C>T | ||
| ENST00000583850.5:n.26C>T | ||
| ENST00000583858.5:c.280C>T | ||
| ENST00000585203.6:n.459C>T | ||
| NM_000018.3:c.1251C>T | NP_000009.1:p.Ile417= | |
| NM_001033859.2:c.1185C>T | NP_001029031.1:p.Ile395= | |
| NM_001270447.1:c.1320C>T | NP_001257376.1:p.Ile440= | |
| NM_001270448.1:c.1023C>T | NP_001257377.1:p.Ile341= | |
| XM_006721516.2:c.1251C>T | XP_006721579.2:p.Ile417= | |
| XM_011523829.1:c.1251C>T | XP_011522131.1:p.Ile417= | |
| XM_011523830.1:c.1251C>T | XP_011522132.1:p.Ile417= | |
| XR_934021.1:n.1358C>T | ||
| XR_934022.1:n.1358C>T | ||
| XR_934023.1:n.1358C>T | ||
| XM_006721516.3:c.1251C>T | XP_006721579.2:p.Ile417= | |
| XM_011523829.2:c.1251C>T | XP_011522131.1:p.Ile417= | |
| XM_011523830.2:c.1251C>T | XP_011522132.1:p.Ile417= | |
| XM_024450741.1:c.1251C>T | XP_024306509.1:p.Ile417= | |
| XR_934021.2:n.1310C>T | ||
| XR_934022.2:n.1310C>T | ||
| XR_934023.2:n.1310C>T | ||
| NM_000018.4:c.1251C>T MANE Select | NP_000009.1:p.Ile417= | |
| NM_001033859.3:c.1185C>T | NP_001029031.1:p.Ile395= | |
| NM_001270447.2:c.1320C>T | NP_001257376.1:p.Ile440= | |
| NM_001270448.2:c.1023C>T | NP_001257377.1:p.Ile341= |