Linked Data
ClinVar Variation Id:
238988
ClinVar RCV Id:
RCV000225882
dbSNP Id:
rs548585661
ExAC:
5:13919419 C / T
gnomAD v2:
5-13919419-C-T
gnomAD v4:
5-13919310-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13919310C>T , CM000667.2:g.13919310C>T | GRCh38 |
| NC_000005.9:g.13919419C>T , CM000667.1:g.13919419C>T | GRCh37 |
| NC_000005.8:g.13972419C>T | NCBI36 |
| NG_013081.1:g.30171G>A | |
| NG_013081.2:g.30171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.897G>A | ||
| ENST00000682376.1:n.885G>A | ||
| ENST00000682586.1:n.934G>A | ||
| ENST00000683011.1:n.780G>A | ||
| ENST00000683967.1:n.940G>A | ||
| ENST00000684013.1:n.940G>A | ||
| ENST00000684099.1:n.936G>A | ||
| ENST00000265104.5:c.841G>A MANE Select | ENSP00000265104.4:p.Val281Ile | |
| ENST00000680213.1:c.601G>A | ENSP00000506622.1:p.Val201Ile | |
| ENST00000681290.1:c.796G>A | ENSP00000505288.1:p.Val266Ile | |
| ENST00000265104.4:c.841G>A | ENSP00000265104.4:p.Val281Ile | |
| ENST00000508040.1:n.1249G>A | ||
| NM_001369.2:c.841G>A | NP_001360.1:p.Val281Ile | |
| XM_005248262.2:c.796G>A | XP_005248319.1:p.Val266Ile | |
| XM_011513990.1:c.841G>A | XP_011512292.1:p.Val281Ile | |
| XR_925598.1:n.1048G>A | ||
| XM_005248262.3:c.949G>A | XP_005248319.2:p.Val317Ile | |
| XM_017009177.1:c.949G>A | XP_016864666.1:p.Val317Ile | |
| XM_017009178.1:c.-147G>A | XP_016864667.1:n.-147G>A | |
| XM_017009180.1:c.949G>A | XP_016864669.1:p.Val317Ile | |
| XM_017009181.1:c.949G>A | XP_016864670.1:p.Val317Ile | |
| XM_017009182.1:c.949G>A | XP_016864671.1:p.Val317Ile | |
| XM_017009183.1:c.949G>A | XP_016864672.1:p.Val317Ile | |
| XM_017009184.1:c.949G>A | XP_016864673.1:p.Val317Ile | |
| XM_017009187.1:c.949G>A | XP_016864676.1:p.Val317Ile | |
| XM_024454388.1:c.-2066G>A | XP_024310156.1:n.-2066G>A | |
| XM_024454389.1:c.-1119G>A | XP_024310157.1:n.-1119G>A | |
| XR_001742034.1:n.966G>A | ||
| XR_001742035.1:n.966G>A | ||
| NM_001369.3:c.841G>A MANE Select | NP_001360.1:p.Val281Ile |