Linked Data
ClinVar Variation Id:
1166449
ClinVar RCV Id:
RCV001514718
dbSNP Id:
rs200206019
ExAC:
X:47058295 G / A
gnomAD v2:
X-47058295-G-A
gnomAD v3:
X-47198896-G-A
gnomAD v4:
X-47198896-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47198896G>A , CM000685.2:g.47198896G>A | GRCh38 |
| NC_000023.10:g.47058295G>A , CM000685.1:g.47058295G>A | GRCh37 |
| NC_000023.9:g.46943239G>A | NCBI36 |
| NG_009161.1:g.13097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335972.11:c.94G>A MANE Select | ENSP00000338413.6:p.Glu32Lys | |
| ENST00000335972.10:c.94G>A | ENSP00000338413.6:p.Glu32Lys | |
| ENST00000377351.8:c.94G>A | ENSP00000366568.4:p.Glu32Lys | |
| ENST00000412206.5:c.94G>A | ENSP00000415033.1:p.Glu32Lys | |
| ENST00000427561.5:c.136G>A | ENSP00000397816.1:p.Glu46Lys | |
| ENST00000442035.5:c.136G>A | ENSP00000389583.1:p.Glu46Lys | |
| ENST00000451702.2:c.247G>A | ENSP00000401101.1:p.Glu83Lys | |
| ENST00000457753.5:c.247G>A | ENSP00000404796.1:p.Glu83Lys | |
| NM_003334.3:c.94G>A | NP_003325.2:p.Glu32Lys | |
| NM_153280.2:c.94G>A | NP_695012.1:p.Glu32Lys | |
| XM_005272649.1:c.112G>A | XP_005272706.1:p.Glu38Lys | |
| XM_005272650.1:c.94G>A | XP_005272707.1:p.Glu32Lys | |
| XM_011543953.1:c.178G>A | XP_011542255.1:p.Glu60Lys | |
| XM_011543954.1:c.136G>A | XP_011542256.1:p.Glu46Lys | |
| XM_011543955.1:c.112G>A | XP_011542257.1:p.Glu38Lys | |
| XM_011543956.1:c.94G>A | XP_011542258.1:p.Glu32Lys | |
| XM_011543954.2:c.136G>A | XP_011542256.1:p.Glu46Lys | |
| XM_017029777.1:c.247G>A | XP_016885266.1:p.Glu83Lys | |
| XM_017029778.2:c.178G>A | XP_016885267.1:p.Glu60Lys | |
| XM_017029779.2:c.112G>A | XP_016885268.1:p.Glu38Lys | |
| XM_017029780.1:c.94G>A | XP_016885269.1:p.Glu32Lys | |
| XM_017029781.1:c.94G>A | XP_016885270.1:p.Glu32Lys | |
| NM_003334.4:c.94G>A MANE Select | NP_003325.2:p.Glu32Lys | |
| NM_153280.3:c.94G>A | NP_695012.1:p.Glu32Lys |