Linked Data
dbSNP Id:
rs1801178089
gnomAD v4:
6-45512253-G-A
MyVariant Identifiers:
chr6:g.45479990G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45512253G>A , CM000668.2:g.45512253G>A | GRCh38 |
| NC_000006.11:g.45479990G>A , CM000668.1:g.45479990G>A | GRCh37 |
| NC_000006.10:g.45587968G>A | NCBI36 |
| NG_008020.1:g.188937G>A | |
| NG_008020.2:g.188937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.825G>A | ENSP00000496517.1:p.Arg275= | |
| ENST00000647337.2:c.867G>A MANE Select | ENSP00000495497.1:p.Arg289= | |
| ENST00000359524.7:c.825G>A | ENSP00000352514.5:p.Arg275= | |
| ENST00000371432.7:c.867G>A | ENSP00000360486.4:p.Arg289= | |
| ENST00000371436.10:c.867G>A | ENSP00000360491.6:p.Arg289= | |
| ENST00000371438.5:c.867G>A | ENSP00000360493.1:p.Arg289= | |
| ENST00000465038.6:c.867G>A | ENSP00000420707.2:p.Arg289= | |
| ENST00000478660.6:c.651G>A | ENSP00000460188.1:p.Arg217= | |
| ENST00000483377.5:c.*388G>A | ENSP00000461357.1:n.*388G>A | |
| ENST00000576263.5:c.867G>A | ENSP00000458178.1:p.Arg289= | |
| ENST00000625924.1:c.825G>A | ENSP00000485863.1:p.Arg275= | |
| NM_001015051.3:c.867G>A | NP_001015051.3:p.Arg289= | |
| NM_001024630.3:c.867G>A | NP_001019801.3:p.Arg289= | |
| NM_001278478.1:c.825G>A | NP_001265407.1:p.Arg275= | |
| XM_006715232.1:c.651G>A | XP_006715295.1:p.Arg217= | |
| XM_011514960.1:c.1071G>A | XP_011513262.1:p.Arg357= | |
| XM_011514961.1:c.1071G>A | XP_011513263.1:p.Arg357= | |
| XM_011514962.1:c.1071G>A | XP_011513264.1:p.Arg357= | |
| XM_011514963.1:c.897G>A | XP_011513265.1:p.Arg299= | |
| XM_011514964.1:c.1071G>A | XP_011513266.1:p.Arg357= | |
| XM_011514965.1:c.1071G>A | XP_011513267.1:p.Arg357= | |
| XM_011514966.1:c.399G>A | XP_011513268.1:p.Arg133= | |
| XR_926323.1:n.1665G>A | ||
| NM_001024630.4:c.867G>A MANE Select | NP_001019801.3:p.Arg289= | |
| NM_001278478.2:c.825G>A | NP_001265407.1:p.Arg275= | |
| NM_001369405.1:c.825G>A | NP_001356334.1:p.Arg275= | |
| NM_001015051.4:c.867G>A | NP_001015051.3:p.Arg289= |