Linked Data
dbSNP Id:
rs761485619
ExAC:
X:41333797 C / A
gnomAD v2:
X-41333797-C-A
gnomAD v4:
X-41474544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474544C>A , CM000685.2:g.41474544C>A | GRCh38 |
| NC_000023.10:g.41333797C>A , CM000685.1:g.41333797C>A | GRCh37 |
| NC_000023.9:g.41218741C>A | NCBI36 |
| NG_009112.1:g.32085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1076C>A | ENSP00000340328.3:p.Ser359Tyr | |
| ENST00000378220.3:c.1076C>A MANE Select | ENSP00000367465.2:p.Ser359Tyr | |
| ENST00000378220.2:c.1091C>A | ENSP00000367465.1:p.Ser364Tyr | |
| ENST00000342595.2:c.1091C>A | ENSP00000340328.2:p.Ser364Tyr | |
| ENST00000378220.1:c.1091C>A | ENSP00000367465.1:p.Ser364Tyr | |
| NM_022567.2:c.1091C>A | NP_072089.1:p.Ser364Tyr | |
| XM_005272632.2:c.1091C>A | XP_005272689.1:p.Ser364Tyr | |
| XM_017029709.1:c.1091C>A | XP_016885198.1:p.Ser364Tyr | |
| NM_001378477.3:c.1076C>A MANE Select | NP_001365406.2:p.Ser359Tyr | |
| NM_022567.3:c.1076C>A | NP_072089.2:p.Ser359Tyr |