Linked Data
ClinVar Variation Id:
476623
dbSNP Id:
rs76105803
ExAC:
19:42753160 A / G
gnomAD v2:
19-42753160-A-G
gnomAD v3:
19-42249008-A-G
gnomAD v4:
19-42249008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42249008A>G , CM000681.2:g.42249008A>G | GRCh38 |
| NC_000019.9:g.42753160A>G , CM000681.1:g.42753160A>G | GRCh37 |
| NC_000019.8:g.47445000A>G | NCBI36 |
| NG_042802.1:g.11157T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222329.9:c.1104T>C MANE Select | ENSP00000222329.3:p.Ser368= | |
| ENST00000222329.8:c.1104T>C | ENSP00000222329.3:p.Ser368= | |
| ENST00000440177.6:c.879T>C | ENSP00000388173.2:p.Ser293= | |
| ENST00000594664.1:c.22+5970T>C | ENSP00000470087.1:n.22+5970T>C | |
| NM_001301035.1:c.879T>C | NP_001287964.1:p.Ser293= | |
| NM_001308402.1:c.879T>C | NP_001295331.1:p.Ser293= | |
| NM_001312656.1:c.879T>C | NP_001299585.1:p.Ser293= | |
| NM_006494.3:c.1104T>C | NP_006485.2:p.Ser368= | |
| XM_011526612.1:c.879T>C | XP_011524914.1:p.Ser293= | |
| XM_011526613.1:c.879T>C | XP_011524915.1:p.Ser293= | |
| XM_017026468.1:c.879T>C | XP_016881957.1:p.Ser293= | |
| XM_017026469.1:c.879T>C | XP_016881958.1:p.Ser293= | |
| NM_006494.4:c.1104T>C MANE Select | NP_006485.2:p.Ser368= | |
| NM_001308402.2:c.879T>C | NP_001295331.1:p.Ser293= | |
| NM_001312656.2:c.879T>C | NP_001299585.1:p.Ser293= | |
| NM_001301035.2:c.879T>C | NP_001287964.1:p.Ser293= |