Linked Data
dbSNP Id:
rs782084211
ExAC:
X:100603609 A / G
gnomAD v3:
X-101348621-A-G
gnomAD v4:
X-101348621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348621A>G , CM000685.2:g.101348621A>G | GRCh38 |
| NC_000023.10:g.100603609A>G , CM000685.1:g.100603609A>G | GRCh37 |
| NC_000023.9:g.100490265A>G | NCBI36 |
| NG_009616.1:g.42604T>C , LRG_128:g.42604T>C | |
| NG_011734.1:g.5349T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.44T>C MANE Select | ENSP00000361993.3:p.Val15Ala | |
| ENST00000644112.2:c.44T>C | ENSP00000494385.1:p.Val15Ala | |
| ENST00000645279.1:c.44T>C | ENSP00000494239.1:p.Val15Ala | |
| ENST00000372902.3:c.44T>C | ENSP00000361993.3:p.Val15Ala | |
| ENST00000480575.1:n.129T>C | ||
| NM_001145951.1:c.44T>C | NP_001139423.1:p.Val15Ala | |
| NM_004085.3:c.44T>C | NP_004076.1:p.Val15Ala | |
| NM_004085.4:c.44T>C MANE Select | NP_004076.1:p.Val15Ala | |
| NM_001145951.2:c.44T>C | NP_001139423.1:p.Val15Ala |