Linked Data
ClinVar Variation Id:
351038
dbSNP Id:
rs200744540
ExAC:
5:13736034 C / T
gnomAD v2:
5-13736034-C-T
gnomAD v3:
5-13735925-C-T
gnomAD v4:
5-13735925-C-T
COSMIC:
COSM4775514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735925C>T , CM000667.2:g.13735925C>T | GRCh38 |
| NC_000005.9:g.13736034C>T , CM000667.1:g.13736034C>T | GRCh37 |
| NC_000005.8:g.13789034C>T | NCBI36 |
| NG_013081.1:g.213556G>A | |
| NG_013081.2:g.213556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11463G>A MANE Select | ENSP00000265104.4:p.Thr3821= | |
| ENST00000681290.1:c.11418G>A | ENSP00000505288.1:p.Thr3806= | |
| ENST00000265104.4:c.11463G>A | ENSP00000265104.4:p.Thr3821= | |
| NM_001369.2:c.11463G>A | NP_001360.1:p.Thr3821= | |
| XM_005248262.2:c.11418G>A | XP_005248319.1:p.Thr3806= | |
| XM_005248262.3:c.11571G>A | XP_005248319.2:p.Thr3857= | |
| XM_017009177.1:c.11571G>A | XP_016864666.1:p.Thr3857= | |
| XM_017009178.1:c.10476G>A | XP_016864667.1:p.Thr3492= | |
| XM_017009179.2:c.10476G>A | XP_016864668.1:p.Thr3492= | |
| XM_017009180.1:c.11571G>A | XP_016864669.1:p.Thr3857= | |
| XM_017009181.1:c.11571G>A | XP_016864670.1:p.Thr3857= | |
| XM_017009182.1:c.11327G>A | XP_016864671.1:p.Arg3776His | |
| XM_017009185.1:c.6660G>A | XP_016864674.1:p.Thr2220= | |
| XM_017009186.1:c.6213G>A | XP_016864675.1:p.Thr2071= | |
| XM_017009188.1:c.5550G>A | XP_016864677.1:p.Thr1850= | |
| XM_024454388.1:c.10476G>A | XP_024310156.1:p.Thr3492= | |
| XM_024454389.1:c.10065G>A | XP_024310157.1:p.Thr3355= | |
| NM_001369.3:c.11463G>A MANE Select | NP_001360.1:p.Thr3821= |