Linked Data
ClinVar Variation Id:
513712
dbSNP Id:
rs200340536
ExAC:
X:47059032 C / G
gnomAD v2:
X-47059032-C-G
gnomAD v3:
X-47199633-C-G
gnomAD v4:
X-47199633-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47199633C>G , CM000685.2:g.47199633C>G | GRCh38 |
| NC_000023.10:g.47059032C>G , CM000685.1:g.47059032C>G | GRCh37 |
| NC_000023.9:g.46943976C>G | NCBI36 |
| NG_009161.1:g.13834C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335972.11:c.480+19C>G MANE Select | ENSP00000338413.6:n.480+19C>G | |
| ENST00000335972.10:c.480+19C>G | ENSP00000338413.6:n.480+19C>G | |
| ENST00000377351.8:c.480+19C>G | ENSP00000366568.4:n.480+19C>G | |
| ENST00000412206.5:c.480+19C>G | ENSP00000415033.1:n.480+19C>G | |
| ENST00000442035.5:c.522+19C>G | ENSP00000389583.1:n.522+19C>G | |
| ENST00000451702.2:c.633+19C>G | ENSP00000401101.1:n.633+19C>G | |
| NM_003334.3:c.480+19C>G | NP_003325.2:n.480+19C>G | |
| NM_153280.2:c.480+19C>G | NP_695012.1:n.480+19C>G | |
| XM_005272649.1:c.498+19C>G | XP_005272706.1:n.498+19C>G | |
| XM_005272650.1:c.480+19C>G | XP_005272707.1:n.480+19C>G | |
| XM_011543953.1:c.564+19C>G | XP_011542255.1:n.564+19C>G | |
| XM_011543954.1:c.522+19C>G | XP_011542256.1:n.522+19C>G | |
| XM_011543955.1:c.498+19C>G | XP_011542257.1:n.498+19C>G | |
| XM_011543956.1:c.480+19C>G | XP_011542258.1:n.480+19C>G | |
| XM_011543954.2:c.522+19C>G | XP_011542256.1:n.522+19C>G | |
| XM_017029777.1:c.633+19C>G | XP_016885266.1:n.633+19C>G | |
| XM_017029778.2:c.564+19C>G | XP_016885267.1:n.564+19C>G | |
| XM_017029779.2:c.498+19C>G | XP_016885268.1:n.498+19C>G | |
| XM_017029780.1:c.480+19C>G | XP_016885269.1:n.480+19C>G | |
| XM_017029781.1:c.480+19C>G | XP_016885270.1:n.480+19C>G | |
| NM_003334.4:c.480+19C>G MANE Select | NP_003325.2:n.480+19C>G | |
| NM_153280.3:c.480+19C>G | NP_695012.1:n.480+19C>G |