Linked Data
ClinVar Variation Id:
2177681
ClinVar RCV Id:
RCV002585665
dbSNP Id:
rs750490042
ExAC:
5:13735315 T / C
gnomAD v2:
5-13735315-T-C
gnomAD v4:
5-13735206-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735206T>C , CM000667.2:g.13735206T>C | GRCh38 |
| NC_000005.9:g.13735315T>C , CM000667.1:g.13735315T>C | GRCh37 |
| NC_000005.8:g.13788315T>C | NCBI36 |
| NG_013081.1:g.214275A>G | |
| NG_013081.2:g.214275A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.11686A>G MANE Select | ENSP00000265104.4:p.Thr3896Ala | |
| ENST00000681290.1:c.11641A>G | ENSP00000505288.1:p.Thr3881Ala | |
| ENST00000265104.4:c.11686A>G | ENSP00000265104.4:p.Thr3896Ala | |
| NM_001369.2:c.11686A>G | NP_001360.1:p.Thr3896Ala | |
| XM_005248262.2:c.11641A>G | XP_005248319.1:p.Thr3881Ala | |
| XM_005248262.3:c.11794A>G | XP_005248319.2:p.Thr3932Ala | |
| XM_017009177.1:c.11794A>G | XP_016864666.1:p.Thr3932Ala | |
| XM_017009178.1:c.10699A>G | XP_016864667.1:p.Thr3567Ala | |
| XM_017009179.2:c.10699A>G | XP_016864668.1:p.Thr3567Ala | |
| XM_017009180.1:c.11794A>G | XP_016864669.1:p.Thr3932Ala | |
| XM_017009181.1:c.11794A>G | XP_016864670.1:p.Thr3932Ala | |
| XM_017009185.1:c.6883A>G | XP_016864674.1:p.Thr2295Ala | |
| XM_017009186.1:c.6436A>G | XP_016864675.1:p.Thr2146Ala | |
| XM_017009188.1:c.5773A>G | XP_016864677.1:p.Thr1925Ala | |
| XM_024454388.1:c.10699A>G | XP_024310156.1:p.Thr3567Ala | |
| XM_024454389.1:c.10288A>G | XP_024310157.1:p.Thr3430Ala | |
| NM_001369.3:c.11686A>G MANE Select | NP_001360.1:p.Thr3896Ala |