Linked Data
ClinVar Variation Id:
201332
dbSNP Id:
rs750908017
ExAC:
1:237947439 A / C
gnomAD v2:
1-237947439-A-C
gnomAD v3:
1-237784139-A-C
gnomAD v4:
1-237784139-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784139A>C , CM000663.2:g.237784139A>C | GRCh38 |
| NC_000001.10:g.237947439A>C , CM000663.1:g.237947439A>C | GRCh37 |
| NC_000001.9:g.236014062A>C | NCBI36 |
| NG_008799.2:g.746738A>C | |
| NG_008799.3:g.746956A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3519A>C | ENSP00000499659.2:n.*3519A>C | |
| ENST00000659194.3:c.12415A>C | ENSP00000499653.3:p.Lys4139Gln | |
| ENST00000660292.2:c.12448A>C | ENSP00000499787.2:p.Lys4150Gln | |
| ENST00000659194.2:c.4604A>C | ||
| ENST00000366574.7:c.12427A>C MANE Select | ENSP00000355533.2:p.Lys4143Gln | |
| ENST00000659194.1:c.4604A>C | ||
| ENST00000660292.1:c.2480A>C | ||
| ENST00000360064.7:c.12379A>C | ENSP00000353174.7:p.Lys4127Gln | |
| ENST00000366574.6:c.12427A>C | ENSP00000355533.2:p.Lys4143Gln | |
| ENST00000609119.1:n.3622A>C | ||
| NM_001035.2:c.12427A>C | NP_001026.2:p.Lys4143Gln | |
| XM_006711802.2:c.12481A>C | XP_006711865.1:p.Lys4161Gln | |
| XM_006711803.2:c.12478A>C | XP_006711866.1:p.Lys4160Gln | |
| XM_006711804.2:c.12457A>C | XP_006711867.1:p.Lys4153Gln | |
| XM_006711805.2:c.12451A>C | XP_006711868.1:p.Lys4151Gln | |
| XM_006711806.2:c.12445A>C | XP_006711869.1:p.Lys4149Gln | |
| XM_006711807.2:c.12421A>C | XP_006711870.1:p.Lys4141Gln | |
| XM_006711808.2:c.12244A>C | XP_006711871.1:p.Lys4082Gln | |
| XM_006711810.2:c.12388A>C | XP_006711873.1:p.Lys4130Gln | |
| XM_006711802.3:c.12481A>C | XP_006711865.1:p.Lys4161Gln | |
| XM_006711803.3:c.12478A>C | XP_006711866.1:p.Lys4160Gln | |
| XM_006711804.3:c.12457A>C | XP_006711867.1:p.Lys4153Gln | |
| XM_006711805.3:c.12451A>C | XP_006711868.1:p.Lys4151Gln | |
| XM_006711806.3:c.12445A>C | XP_006711869.1:p.Lys4149Gln | |
| XM_006711807.3:c.12421A>C | XP_006711870.1:p.Lys4141Gln | |
| XM_006711808.3:c.12244A>C | XP_006711871.1:p.Lys4082Gln | |
| XM_006711810.3:c.12388A>C | XP_006711873.1:p.Lys4130Gln | |
| XM_017002028.1:c.12460A>C | XP_016857517.1:p.Lys4154Gln | |
| NM_001035.3:c.12427A>C MANE Select | NP_001026.2:p.Lys4143Gln |