Linked Data
ClinVar Variation Id:
379145
dbSNP Id:
rs1057520507
gnomAD v4:
17-7224972-C-T
ERepo:
CA16608642/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224972C>T , CM000679.2:g.7224972C>T | GRCh38 |
| NC_000017.10:g.7128291C>T , CM000679.1:g.7128291C>T | GRCh37 |
| NC_000017.9:g.7069015C>T | NCBI36 |
| NG_007975.1:g.10139C>T | |
| NG_008391.2:g.79G>A | |
| NG_033038.1:g.14573G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1843C>T MANE Select | ENSP00000349297.5:p.Arg615Ter | |
| ENST00000322910.9:c.*1798C>T | ENSP00000325395.5:n.*1798C>T | |
| ENST00000350303.9:c.1777C>T | ENSP00000344152.5:p.Arg593Ter | |
| ENST00000356839.9:c.1843C>T | ENSP00000349297.5:p.Arg615Ter | |
| ENST00000542255.6:c.722C>T | ||
| ENST00000543245.6:c.1912C>T | ENSP00000438689.2:p.Arg638Ter | |
| ENST00000578033.1:n.268C>T | ||
| ENST00000578319.5:n.424C>T | ||
| ENST00000578711.1:n.1468C>T | ||
| ENST00000578809.5:n.415C>T | ||
| ENST00000579425.5:n.959C>T | ||
| ENST00000579546.1:c.578C>T | ||
| ENST00000583848.5:c.209C>T | ENSP00000466487.1:n.209C>T | |
| ENST00000583850.5:n.614C>T | ||
| ENST00000583858.5:c.774C>T | ||
| NM_000018.3:c.1843C>T | NP_000009.1:p.Arg615Ter | |
| NM_001033859.2:c.1777C>T | NP_001029031.1:p.Arg593Ter | |
| NM_001270447.1:c.1912C>T | NP_001257376.1:p.Arg638Ter | |
| NM_001270448.1:c.1615C>T | NP_001257377.1:p.Arg539Ter | |
| XM_006721516.2:c.1864C>T | XP_006721579.2:p.Arg622Ter | |
| XM_011523829.1:c.1762C>T | XP_011522131.1:p.Arg588Ter | |
| XM_011523830.1:c.1741C>T | XP_011522132.1:p.Arg581Ter | |
| XR_934021.1:n.1946C>T | ||
| XR_934022.1:n.1852C>T | ||
| XR_934023.1:n.1873C>T | ||
| XM_006721516.3:c.1864C>T | XP_006721579.2:p.Arg622Ter | |
| XM_011523829.2:c.1762C>T | XP_011522131.1:p.Arg588Ter | |
| XM_011523830.2:c.1741C>T | XP_011522132.1:p.Arg581Ter | |
| XM_024450741.1:c.1831C>T | XP_024306509.1:p.Arg611Ter | |
| XR_934021.2:n.1898C>T | ||
| XR_934022.2:n.1804C>T | ||
| XR_934023.2:n.1825C>T | ||
| NM_000018.4:c.1843C>T MANE Select | NP_000009.1:p.Arg615Ter | |
| NM_001033859.3:c.1777C>T | NP_001029031.1:p.Arg593Ter | |
| NM_001270447.2:c.1912C>T | NP_001257376.1:p.Arg638Ter | |
| NM_001270448.2:c.1615C>T | NP_001257377.1:p.Arg539Ter |