Linked Data
ClinVar Variation Id:
1132471
ClinVar RCV Id:
RCV001466717
dbSNP Id:
rs1483552442
gnomAD v2:
5-131721111-G-A
gnomAD v4:
5-132385419-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385419G>A , CM000667.2:g.132385419G>A | GRCh38 |
| NC_000005.9:g.131721111G>A , CM000667.1:g.131721111G>A | GRCh37 |
| NC_000005.8:g.131749010G>A | NCBI36 |
| NG_008982.1:g.20711G>A | |
| NG_008982.2:g.20716G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.665+1105G>A | ENSP00000388838.2:n.665+1105G>A | |
| ENST00000435065.7:c.816G>A | ENSP00000402760.2:p.Leu272= | |
| ENST00000448810.6:c.744G>A | ENSP00000401860.2:p.Leu248= | |
| ENST00000686757.1:c.763G>A | ENSP00000510721.1:p.Val255Ile | |
| ENST00000687740.1:n.1904G>A | ||
| ENST00000688151.1:n.1936G>A | ||
| ENST00000689271.1:c.671+1099G>A | ENSP00000510797.1:n.671+1099G>A | |
| ENST00000690900.1:c.715G>A | ENSP00000510703.1:p.Val239Ile | |
| ENST00000692212.1:n.570G>A | ||
| ENST00000692355.1:c.204+1118G>A | ||
| ENST00000692413.1:c.763G>A | ENSP00000509374.1:p.Val255Ile | |
| ENST00000692825.1:c.812G>A | ENSP00000509447.1:n.812G>A | |
| ENST00000693308.1:c.757G>A | ENSP00000509770.1:p.Val253Ile | |
| ENST00000693763.1:n.1904G>A | ||
| ENST00000245407.8:c.744G>A MANE Select | ENSP00000245407.3:p.Leu248= | |
| ENST00000245407.7:c.744G>A | ENSP00000245407.3:p.Leu248= | |
| ENST00000415928.5:c.513G>A | ENSP00000388838.1:p.Leu171= | |
| ENST00000435065.6:c.816G>A | ENSP00000402760.2:p.Leu272= | |
| ENST00000437841.6:c.*59G>A | ENSP00000400553.1:n.*59G>A | |
| ENST00000448810.5:c.92G>A | ||
| ENST00000461013.5:n.8166G>A | ||
| NM_001308122.1:c.816G>A | NP_001295051.1:p.Leu272= | |
| NM_003060.3:c.744G>A | NP_003051.1:p.Leu248= | |
| XM_011543590.1:c.126G>A | XP_011541892.1:p.Leu42= | |
| XR_427718.1:n.1104G>A | ||
| XR_948290.1:n.1085G>A | ||
| XR_948291.1:n.1098G>A | ||
| XM_011543590.2:c.126G>A | XP_011541892.1:p.Leu42= | |
| XM_017009778.2:c.216G>A | XP_016865267.1:p.Leu72= | |
| XR_001742215.1:n.1085G>A | ||
| XR_001742216.1:n.1104G>A | ||
| XR_427718.2:n.1104G>A | ||
| XR_948290.2:n.1085G>A | ||
| XR_948291.2:n.1098G>A | ||
| NM_003060.4:c.744G>A MANE Select | NP_003051.1:p.Leu248= | |
| NM_001308122.2:c.816G>A | NP_001295051.1:p.Leu272= |