Linked Data
dbSNP Id:
rs759828094
ExAC:
22:36661275 T / C
gnomAD v2:
22-36661275-T-C
gnomAD v4:
22-36265229-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36265229T>C , CM000684.2:g.36265229T>C | GRCh38 |
| NC_000022.10:g.36661275T>C , CM000684.1:g.36661275T>C | GRCh37 |
| NC_000022.9:g.34991221T>C | NCBI36 |
| NG_023228.1:g.17159T>C , LRG_169:g.17159T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427990.6:c.393T>C | ENSP00000391302.2:p.Asp131= | |
| ENST00000433768.6:c.*155T>C | ENSP00000392514.1:n.*155T>C | |
| ENST00000438034.6:c.480T>C | ENSP00000404525.2:p.Asp160= | |
| ENST00000397278.8:c.393T>C MANE Select | ENSP00000380448.4:p.Asp131= | |
| ENST00000319136.8:c.441T>C | ENSP00000317674.4:p.Asp147= | |
| ENST00000397278.7:c.393T>C | ENSP00000380448.3:p.Asp131= | |
| ENST00000397279.8:c.393T>C | ENSP00000380449.4:p.Asp131= | |
| ENST00000422706.5:c.393T>C | ENSP00000411507.1:p.Asp131= | |
| ENST00000426053.5:c.339T>C | ENSP00000388477.1:p.Asp113= | |
| ENST00000427990.5:c.393T>C | ENSP00000391302.1:p.Asp131= | |
| NM_001136540.1:c.393T>C | NP_001130012.1:p.Asp131= | |
| NM_001136541.1:c.339T>C | NP_001130013.1:p.Asp113= | |
| NM_003661.3:c.393T>C | NP_003652.2:p.Asp131= | |
| NM_145343.2:c.441T>C , LRG_169t1:c.441T>C | NP_663318.1:p.Asp147= | |
| XM_005261796.2:c.339T>C | XP_005261853.1:p.Asp113= | |
| XM_011530478.1:c.30T>C | XP_011528780.1:p.Asp10= | |
| NM_001362927.1:c.339T>C | NP_001349856.1:p.Asp113= | |
| XM_011530478.2:c.30T>C | XP_011528780.1:p.Asp10= | |
| NM_001362927.2:c.339T>C | NP_001349856.1:p.Asp113= | |
| NM_003661.4:c.393T>C MANE Select | NP_003652.2:p.Asp131= | |
| NM_001136540.2:c.393T>C | NP_001130012.1:p.Asp131= | |
| NM_001136541.2:c.339T>C | NP_001130013.1:p.Asp113= | |
| NM_145343.3:c.441T>C | NP_663318.1:p.Asp147= |