Linked Data
ClinVar Variation Id:
2909189
ClinVar RCV Id:
RCV003651712
dbSNP Id:
rs367792636
ExAC:
5:13735314 G / A
gnomAD v2:
5-13735314-G-A
gnomAD v3:
5-13735205-G-A
gnomAD v4:
5-13735205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735205G>A , CM000667.2:g.13735205G>A | GRCh38 |
| NC_000005.9:g.13735314G>A , CM000667.1:g.13735314G>A | GRCh37 |
| NC_000005.8:g.13788314G>A | NCBI36 |
| NG_013081.1:g.214276C>T | |
| NG_013081.2:g.214276C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.11687C>T MANE Select | ENSP00000265104.4:p.Thr3896Ile | |
| ENST00000681290.1:c.11642C>T | ENSP00000505288.1:p.Thr3881Ile | |
| ENST00000265104.4:c.11687C>T | ENSP00000265104.4:p.Thr3896Ile | |
| NM_001369.2:c.11687C>T | NP_001360.1:p.Thr3896Ile | |
| XM_005248262.2:c.11642C>T | XP_005248319.1:p.Thr3881Ile | |
| XM_005248262.3:c.11795C>T | XP_005248319.2:p.Thr3932Ile | |
| XM_017009177.1:c.11795C>T | XP_016864666.1:p.Thr3932Ile | |
| XM_017009178.1:c.10700C>T | XP_016864667.1:p.Thr3567Ile | |
| XM_017009179.2:c.10700C>T | XP_016864668.1:p.Thr3567Ile | |
| XM_017009180.1:c.11795C>T | XP_016864669.1:p.Thr3932Ile | |
| XM_017009181.1:c.11795C>T | XP_016864670.1:p.Thr3932Ile | |
| XM_017009185.1:c.6884C>T | XP_016864674.1:p.Thr2295Ile | |
| XM_017009186.1:c.6437C>T | XP_016864675.1:p.Thr2146Ile | |
| XM_017009188.1:c.5774C>T | XP_016864677.1:p.Thr1925Ile | |
| XM_024454388.1:c.10700C>T | XP_024310156.1:p.Thr3567Ile | |
| XM_024454389.1:c.10289C>T | XP_024310157.1:p.Thr3430Ile | |
| NM_001369.3:c.11687C>T MANE Select | NP_001360.1:p.Thr3896Ile |