Linked Data
dbSNP Id:
rs750169676
ExAC:
X:41333969 G / A
gnomAD v2:
X-41333969-G-A
gnomAD v4:
X-41474716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474716G>A , CM000685.2:g.41474716G>A | GRCh38 |
| NC_000023.10:g.41333969G>A , CM000685.1:g.41333969G>A | GRCh37 |
| NC_000023.9:g.41218913G>A | NCBI36 |
| NG_009112.1:g.32257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1248G>A | ENSP00000340328.3:p.Leu416= | |
| ENST00000378220.3:c.1248G>A MANE Select | ENSP00000367465.2:p.Leu416= | |
| ENST00000378220.2:c.1263G>A | ENSP00000367465.1:p.Leu421= | |
| ENST00000342595.2:c.1263G>A | ENSP00000340328.2:p.Leu421= | |
| ENST00000378220.1:c.1263G>A | ENSP00000367465.1:p.Leu421= | |
| NM_022567.2:c.1263G>A | NP_072089.1:p.Leu421= | |
| XM_005272632.2:c.1263G>A | XP_005272689.1:p.Leu421= | |
| XM_017029709.1:c.1263G>A | XP_016885198.1:p.Leu421= | |
| NM_001378477.3:c.1248G>A MANE Select | NP_001365406.2:p.Leu416= | |
| NM_022567.3:c.1248G>A | NP_072089.2:p.Leu416= |