Linked Data
ClinVar Variation Id:
712347
ClinVar RCV Id:
RCV000884287
dbSNP Id:
rs761137892
ExAC:
4:104060985 C / T
gnomAD v2:
4-104060985-C-T
gnomAD v3:
4-103139828-C-T
gnomAD v4:
4-103139828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103139828C>T , CM000666.2:g.103139828C>T | GRCh38 |
| NC_000004.11:g.104060985C>T , CM000666.1:g.104060985C>T | GRCh37 |
| NC_000004.10:g.104280434C>T | NCBI36 |
| NG_041798.1:g.63582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.6165G>A MANE Select | ENSP00000265148.3:p.Arg2055= | |
| ENST00000380026.8:c.5838+428G>A | ENSP00000369365.3:n.5838+428G>A | |
| ENST00000265148.7:c.6165G>A | ENSP00000265148.3:p.Arg2055= | |
| ENST00000380026.7:c.5838+428G>A | ENSP00000369365.3:n.5838+428G>A | |
| ENST00000611174.4:c.6162G>A | ENSP00000483542.1:p.Arg2054= | |
| NM_001286734.1:c.5838+428G>A | NP_001273663.1:n.5838+428G>A | |
| NM_001813.2:c.6165G>A | NP_001804.2:p.Arg2055= | |
| XM_011531544.1:c.6090G>A | XP_011529846.1:p.Arg2030= | |
| XM_011531545.1:c.6006G>A | XP_011529847.1:p.Arg2002= | |
| XM_011531546.1:c.5961G>A | XP_011529848.1:p.Arg1987= | |
| XM_011531547.1:c.5913+428G>A | XP_011529849.1:n.5913+428G>A | |
| XM_011531548.1:c.5913+428G>A | XP_011529850.1:n.5913+428G>A | |
| XM_011531549.1:c.5721G>A | XP_011529851.1:p.Arg1907= | |
| XM_011531544.2:c.6090G>A | XP_011529846.1:p.Arg2030= | |
| XM_011531545.2:c.6006G>A | XP_011529847.1:p.Arg2002= | |
| XM_011531546.3:c.5961G>A | XP_011529848.1:p.Arg1987= | |
| XM_011531547.2:c.5913+428G>A | XP_011529849.1:n.5913+428G>A | |
| XM_011531548.2:c.5913+428G>A | XP_011529850.1:n.5913+428G>A | |
| XM_011531549.2:c.5721G>A | XP_011529851.1:p.Arg1907= | |
| XM_017007659.1:c.5754+428G>A | XP_016863148.1:n.5754+428G>A | |
| NM_001286734.2:c.5838+428G>A | NP_001273663.1:n.5838+428G>A | |
| NM_001813.3:c.6165G>A MANE Select | NP_001804.2:p.Arg2055= |