Linked Data
ClinVar Variation Id:
136472
dbSNP Id:
rs143768042
ExAC:
9:93983252 G / A
gnomAD v2:
9-93983252-G-A
gnomAD v3:
9-91220970-G-A
gnomAD v4:
9-91220970-G-A
COSMIC:
COSM1463528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91220970G>A , CM000671.2:g.91220970G>A | GRCh38 |
| NC_000009.11:g.93983252G>A , CM000671.1:g.93983252G>A | GRCh37 |
| NC_000009.10:g.93023073G>A | NCBI36 |
| NG_008017.1:g.145955C>T , LRG_449:g.145955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.678C>T MANE Select | ENSP00000364883.5:p.Arg226= | |
| ENST00000303617.5:c.591C>T | ENSP00000307334.5:p.Arg197= | |
| ENST00000375731.8:c.678C>T | ENSP00000364883.4:p.Arg226= | |
| NM_001306190.1:c.591C>T | NP_001293119.1:p.Arg197= | |
| NM_001698.2:c.678C>T , LRG_449t1:c.678C>T | NP_001689.1:p.Arg226= | |
| XM_005252066.2:c.708C>T | XP_005252123.1:p.Arg236= | |
| XM_005252067.3:c.708C>T | XP_005252124.1:p.Arg236= | |
| XM_005252069.3:c.708C>T | XP_005252126.1:p.Arg236= | |
| XM_005252073.2:c.216C>T | XP_005252130.1:p.Arg72= | |
| XM_006717150.2:c.621C>T | XP_006717213.1:p.Arg207= | |
| XM_011518801.1:c.354C>T | XP_011517103.1:p.Arg118= | |
| XM_011518802.1:c.351C>T | XP_011517104.1:p.Arg117= | |
| NM_001351431.1:c.351C>T | NP_001338360.1:p.Arg117= | |
| NM_001351432.1:c.351C>T | NP_001338361.1:p.Arg117= | |
| NM_001351433.1:c.351C>T | NP_001338362.1:p.Arg117= | |
| XM_005252066.3:c.708C>T | XP_005252123.1:p.Arg236= | |
| XM_005252067.4:c.708C>T | XP_005252124.1:p.Arg236= | |
| XM_005252069.4:c.708C>T | XP_005252126.1:p.Arg236= | |
| XM_006717150.3:c.621C>T | XP_006717213.1:p.Arg207= | |
| XM_017014849.1:c.678C>T | XP_016870338.1:p.Arg226= | |
| XR_001746328.2:n.903C>T | ||
| XR_001746329.2:n.855C>T | ||
| NM_001698.3:c.678C>T MANE Select | NP_001689.1:p.Arg226= | |
| NM_001306190.2:c.591C>T | NP_001293119.1:p.Arg197= | |
| NM_001351431.2:c.351C>T | NP_001338360.1:p.Arg117= | |
| NM_001351432.2:c.351C>T | NP_001338361.1:p.Arg117= | |
| NM_001351433.2:c.351C>T | NP_001338362.1:p.Arg117= |