Linked Data
ClinVar Variation Id:
1557158
ClinVar RCV Id:
RCV002194755
dbSNP Id:
rs1182348785
gnomAD v2:
5-131729417-C-A
gnomAD v4:
5-132393725-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393725C>A , CM000667.2:g.132393725C>A | GRCh38 |
| NC_000005.9:g.131729417C>A , CM000667.1:g.131729417C>A | GRCh37 |
| NC_000005.8:g.131757316C>A | NCBI36 |
| NG_008982.1:g.29017C>A | |
| NG_008982.2:g.29022C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-460C>A | ENSP00000388838.2:n.1292-460C>A | |
| ENST00000435065.7:c.1572C>A | ENSP00000402760.2:p.Ile524= | |
| ENST00000448810.6:c.*352C>A | ENSP00000401860.2:n.*352C>A | |
| ENST00000685543.1:n.1641C>A | ||
| ENST00000686757.1:c.*664C>A | ENSP00000510721.1:n.*664C>A | |
| ENST00000686868.1:n.492C>A | ||
| ENST00000687740.1:n.4185C>A | ||
| ENST00000688151.1:n.2810C>A | ||
| ENST00000689271.1:c.1347C>A | ENSP00000510797.1:p.Ile449= | |
| ENST00000690900.1:c.*664C>A | ENSP00000510703.1:n.*664C>A | |
| ENST00000692212.1:n.4640C>A | ||
| ENST00000692355.1:c.753C>A | ||
| ENST00000692413.1:c.1482C>A | ENSP00000509374.1:p.Ile494= | |
| ENST00000692825.1:c.1568C>A | ENSP00000509447.1:n.1568C>A | |
| ENST00000693308.1:c.1548C>A | ENSP00000509770.1:p.Ile516= | |
| ENST00000693763.1:n.2660C>A | ||
| ENST00000245407.8:c.1500C>A MANE Select | ENSP00000245407.3:p.Ile500= | |
| ENST00000245407.7:c.1500C>A | ENSP00000245407.3:p.Ile500= | |
| ENST00000435065.6:c.1572C>A | ENSP00000402760.2:p.Ile524= | |
| ENST00000447841.5:c.344C>A | ||
| ENST00000448810.5:c.762C>A | ||
| ENST00000461013.5:n.8922C>A | ||
| ENST00000475308.1:n.2178C>A | ||
| NM_001308122.1:c.1572C>A | NP_001295051.1:p.Ile524= | |
| NM_003060.3:c.1500C>A | NP_003051.1:p.Ile500= | |
| XM_011543590.1:c.882C>A | XP_011541892.1:p.Ile294= | |
| XR_948290.1:n.1626C>A | ||
| XM_011543590.2:c.882C>A | XP_011541892.1:p.Ile294= | |
| XM_017009778.2:c.972C>A | XP_016865267.1:p.Ile324= | |
| XR_001742215.1:n.1755C>A | ||
| XR_001742216.1:n.1774C>A | ||
| XR_427718.2:n.1860C>A | ||
| XR_948290.2:n.1626C>A | ||
| XR_948291.2:n.1854C>A | ||
| NM_003060.4:c.1500C>A MANE Select | NP_003051.1:p.Ile500= | |
| NM_001308122.2:c.1572C>A | NP_001295051.1:p.Ile524= |