Linked Data
dbSNP Id:
rs1557045286
gnomAD v2:
X-152959411-T-C
gnomAD v3:
X-153693956-T-C
gnomAD v4:
X-153693956-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693956T>C , CM000685.2:g.153693956T>C | GRCh38 |
| NC_000023.10:g.152959411T>C , CM000685.1:g.152959411T>C | GRCh37 |
| NC_000023.9:g.152612605T>C | NCBI36 |
| NG_012016.1:g.10660T>C | |
| NG_012016.2:g.10660T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1193T>C MANE Select | ENSP00000253122.5:p.Val398Ala | |
| ENST00000253122.9:c.1193T>C | ENSP00000253122.5:p.Val398Ala | |
| ENST00000413787.1:c.258-248T>C | ENSP00000400463.1:n.258-248T>C | |
| ENST00000430077.6:c.848T>C | ENSP00000403041.2:p.Val283Ala | |
| ENST00000442457.1:c.247T>C | ||
| ENST00000457723.1:c.177T>C | ENSP00000394742.1:p.Ser59= | |
| ENST00000467402.1:n.292T>C | ||
| ENST00000485324.1:n.1226T>C | ||
| NM_001142805.1:c.1163T>C | NP_001136277.1:p.Val388Ala | |
| NM_001142806.1:c.848T>C | NP_001136278.1:p.Val283Ala | |
| NM_005629.3:c.1193T>C | NP_005620.1:p.Val398Ala | |
| NM_005629.4:c.1193T>C MANE Select | NP_005620.1:p.Val398Ala | |
| NM_001142805.2:c.1163T>C | NP_001136277.1:p.Val388Ala |