Linked Data
ClinVar Variation Id:
129249
dbSNP Id:
rs61730217
ExAC:
X:53574719 C / A
gnomAD v2:
X-53574719-C-A
gnomAD v3:
X-53547758-C-A
gnomAD v4:
X-53547758-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53547758C>A , CM000685.2:g.53547758C>A | GRCh38 |
| NC_000023.10:g.53574719C>A , CM000685.1:g.53574719C>A | GRCh37 |
| NC_000023.9:g.53591444C>A | NCBI36 |
| NG_016261.2:g.143976G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.10548G>T | ENSP00000515693.1:p.Leu3516= | |
| ENST00000262854.11:c.10551G>T MANE Select | ENSP00000262854.6:p.Leu3517= | |
| ENST00000262854.10:c.10551G>T | ENSP00000262854.6:p.Leu3517= | |
| ENST00000342160.7:c.10551G>T | ENSP00000340648.3:p.Leu3517= | |
| ENST00000426907.5:c.1063G>T | ||
| ENST00000468322.2:c.52G>T | ||
| ENST00000474288.1:n.295G>T | ||
| ENST00000612484.4:c.10524G>T | ENSP00000479451.1:p.Leu3508= | |
| NM_031407.6:c.10551G>T | NP_113584.3:p.Leu3517= | |
| XM_005261965.2:c.10551G>T | XP_005262022.1:p.Leu3517= | |
| XM_011530746.1:c.10800G>T | XP_011529048.1:p.Leu3600= | |
| XM_011530747.1:c.10800G>T | XP_011529049.1:p.Leu3600= | |
| XM_011530748.1:c.10800G>T | XP_011529050.1:p.Leu3600= | |
| XM_011530749.1:c.10800G>T | XP_011529051.1:p.Leu3600= | |
| XM_011530750.1:c.10800G>T | XP_011529052.1:p.Leu3600= | |
| XM_011530751.1:c.10800G>T | XP_011529053.1:p.Leu3600= | |
| XM_011530752.1:c.10797G>T | XP_011529054.1:p.Leu3599= | |
| XM_011530753.1:c.10800G>T | XP_011529055.1:p.Leu3600= | |
| XM_011530754.1:c.10752G>T | XP_011529056.1:p.Leu3584= | |
| XM_011530755.1:c.10749G>T | XP_011529057.1:p.Leu3583= | |
| XM_011530756.1:c.10701G>T | XP_011529058.1:p.Leu3567= | |
| XM_011530757.1:c.10398G>T | XP_011529059.1:p.Leu3466= | |
| XM_011530758.1:c.10800G>T | XP_011529060.1:p.Leu3600= | |
| XR_938360.1:n.11235G>T | ||
| XM_005261965.4:c.10551G>T | XP_005262022.1:p.Leu3517= | |
| XM_011530751.2:c.10800G>T | XP_011529053.1:p.Leu3600= | |
| XM_017029191.1:c.10932G>T | XP_016884680.1:p.Leu3644= | |
| XM_017029192.1:c.10929G>T | XP_016884681.1:p.Leu3643= | |
| XM_017029193.1:c.10911G>T | XP_016884682.1:p.Leu3637= | |
| XM_017029194.1:c.10932G>T | XP_016884683.1:p.Leu3644= | |
| XM_017029195.1:c.10884G>T | XP_016884684.1:p.Leu3628= | |
| XM_017029196.1:c.10881G>T | XP_016884685.1:p.Leu3627= | |
| XM_017029197.1:c.10833G>T | XP_016884686.1:p.Leu3611= | |
| XM_017029198.2:c.10821G>T | XP_016884687.1:p.Leu3607= | |
| XM_017029199.1:c.10821G>T | XP_016884688.1:p.Leu3607= | |
| XM_017029200.1:c.10821G>T | XP_016884689.1:p.Leu3607= | |
| XM_017029201.1:c.10821G>T | XP_016884690.1:p.Leu3607= | |
| XM_017029202.1:c.10821G>T | XP_016884691.1:p.Leu3607= | |
| XM_017029203.1:c.10821G>T | XP_016884692.1:p.Leu3607= | |
| XM_017029204.1:c.10683G>T | XP_016884693.1:p.Leu3561= | |
| XM_017029206.1:c.10530G>T | XP_016884695.1:p.Leu3510= | |
| XM_024452322.1:c.10800G>T | XP_024308090.1:p.Leu3600= | |
| NM_031407.7:c.10551G>T MANE Select | NP_113584.3:p.Leu3517= |