Linked Data
ClinVar Variation Id:
376905
ClinVar RCV Id:
RCV000435383
dbSNP Id:
rs779671497
ExAC:
X:67293014 G / A
gnomAD v2:
X-67293014-G-A
gnomAD v4:
X-68073172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68073172G>A , CM000685.2:g.68073172G>A | GRCh38 |
| NC_000023.10:g.67293014G>A , CM000685.1:g.67293014G>A | GRCh37 |
| NC_000023.9:g.67209739G>A | NCBI36 |
| NG_008960.1:g.365286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.1814C>T MANE Select | ENSP00000347710.5:p.Ser605Phe | |
| ENST00000679748.1:c.1814C>T | ENSP00000505800.1:p.Ser605Phe | |
| ENST00000679822.1:c.1814C>T | ENSP00000505810.1:p.Ser605Phe | |
| ENST00000680592.1:n.1320C>T | ||
| ENST00000680612.1:c.1686+23698C>T | ENSP00000505365.1:n.1686+23698C>T | |
| ENST00000681408.1:c.1709C>T | ENSP00000506619.1:p.Ser570Phe | |
| ENST00000355520.5:c.1814C>T | ENSP00000347710.5:p.Ser605Phe | |
| ENST00000484842.1:n.430C>T | ||
| NM_002547.2:c.1814C>T | NP_002538.1:p.Ser605Phe | |
| XM_005262270.1:c.1814C>T | XP_005262327.1:p.Ser605Phe | |
| XM_006724653.1:c.1814C>T | XP_006724716.1:p.Ser605Phe | |
| XM_011530961.1:c.1814C>T | XP_011529263.1:p.Ser605Phe | |
| XM_006724653.2:c.1814C>T | XP_006724716.1:p.Ser605Phe | |
| NM_002547.3:c.1814C>T MANE Select | NP_002538.1:p.Ser605Phe |