Linked Data
dbSNP Id:
rs753032086
ExAC:
9:93983263 G / T
gnomAD v2:
9-93983263-G-T
gnomAD v3:
9-91220981-G-T
gnomAD v4:
9-91220981-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91220981G>T , CM000671.2:g.91220981G>T | GRCh38 |
| NC_000009.11:g.93983263G>T , CM000671.1:g.93983263G>T | GRCh37 |
| NC_000009.10:g.93023084G>T | NCBI36 |
| NG_008017.1:g.145944C>A , LRG_449:g.145944C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.667C>A MANE Select | ENSP00000364883.5:p.Arg223= | |
| ENST00000303617.5:c.580C>A | ENSP00000307334.5:p.Arg194= | |
| ENST00000375731.8:c.667C>A | ENSP00000364883.4:p.Arg223= | |
| NM_001306190.1:c.580C>A | NP_001293119.1:p.Arg194= | |
| NM_001698.2:c.667C>A , LRG_449t1:c.667C>A | NP_001689.1:p.Arg223= | |
| XM_005252066.2:c.697C>A | XP_005252123.1:p.Arg233= | |
| XM_005252067.3:c.697C>A | XP_005252124.1:p.Arg233= | |
| XM_005252069.3:c.697C>A | XP_005252126.1:p.Arg233= | |
| XM_005252073.2:c.205C>A | XP_005252130.1:p.Arg69= | |
| XM_006717150.2:c.610C>A | XP_006717213.1:p.Arg204= | |
| XM_011518801.1:c.343C>A | XP_011517103.1:p.Arg115= | |
| XM_011518802.1:c.340C>A | XP_011517104.1:p.Arg114= | |
| NM_001351431.1:c.340C>A | NP_001338360.1:p.Arg114= | |
| NM_001351432.1:c.340C>A | NP_001338361.1:p.Arg114= | |
| NM_001351433.1:c.340C>A | NP_001338362.1:p.Arg114= | |
| XM_005252066.3:c.697C>A | XP_005252123.1:p.Arg233= | |
| XM_005252067.4:c.697C>A | XP_005252124.1:p.Arg233= | |
| XM_005252069.4:c.697C>A | XP_005252126.1:p.Arg233= | |
| XM_006717150.3:c.610C>A | XP_006717213.1:p.Arg204= | |
| XM_017014849.1:c.667C>A | XP_016870338.1:p.Arg223= | |
| XR_001746328.2:n.892C>A | ||
| XR_001746329.2:n.844C>A | ||
| NM_001698.3:c.667C>A MANE Select | NP_001689.1:p.Arg223= | |
| NM_001306190.2:c.580C>A | NP_001293119.1:p.Arg194= | |
| NM_001351431.2:c.340C>A | NP_001338360.1:p.Arg114= | |
| NM_001351432.2:c.340C>A | NP_001338361.1:p.Arg114= | |
| NM_001351433.2:c.340C>A | NP_001338362.1:p.Arg114= |