Linked Data
dbSNP Id:
rs781949424
ExAC:
X:154065905 C / T
gnomAD v2:
X-154065905-C-T
gnomAD v3:
X-154837630-C-T
gnomAD v4:
X-154837630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837630C>T , CM000685.2:g.154837630C>T | GRCh38 |
| NC_000023.10:g.154065905C>T , CM000685.1:g.154065905C>T | GRCh37 |
| NC_000023.9:g.153719099C>T | NCBI36 |
| NG_011403.1:g.190094G>A | |
| NG_033065.1:g.2033G>A | |
| NG_011403.2:g.190094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.7023G>A MANE Select | ENSP00000353393.4:p.Glu2341= | |
| ENST00000644698.1:c.756G>A | ENSP00000495706.1:p.Glu252= | |
| ENST00000330287.10:c.618G>A | ENSP00000327895.6:p.Glu206= | |
| ENST00000360256.8:c.7023G>A | ENSP00000353393.4:p.Glu2341= | |
| NM_000132.3:c.7023G>A | NP_000123.1:p.Glu2341= | |
| NM_019863.2:c.618G>A | NP_063916.1:p.Glu206= | |
| XM_011531126.1:c.6918G>A | XP_011529428.1:p.Glu2306= | |
| NM_000132.4:c.7023G>A MANE Select | NP_000123.1:p.Glu2341= | |
| NM_019863.3:c.618G>A | NP_063916.1:p.Glu206= |