Linked Data
dbSNP Id:
rs146334067
gnomAD v3:
5-13708232-G-A
gnomAD v4:
5-13708232-G-A
COSMIC:
COSM6451086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708232G>A , CM000667.2:g.13708232G>A | GRCh38 |
| NC_000005.9:g.13708341G>A , CM000667.1:g.13708341G>A | GRCh37 |
| NC_000005.8:g.13761341G>A | NCBI36 |
| NG_013081.1:g.241249C>T | |
| NG_013081.2:g.241249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.562C>T | ||
| ENST00000265104.5:c.13229C>T MANE Select | ENSP00000265104.4:p.Thr4410Ile | |
| ENST00000681290.1:c.13184C>T | ENSP00000505288.1:p.Thr4395Ile | |
| ENST00000265104.4:c.13229C>T | ENSP00000265104.4:p.Thr4410Ile | |
| NM_001369.2:c.13229C>T | NP_001360.1:p.Thr4410Ile | |
| XM_005248262.2:c.13184C>T | XP_005248319.1:p.Thr4395Ile | |
| XM_005248262.3:c.13337C>T | XP_005248319.2:p.Thr4446Ile | |
| XM_017009177.1:c.12917C>T | XP_016864666.1:p.Thr4306Ile | |
| XM_017009178.1:c.12242C>T | XP_016864667.1:p.Thr4081Ile | |
| XM_017009179.2:c.12242C>T | XP_016864668.1:p.Thr4081Ile | |
| XM_017009185.1:c.8426C>T | XP_016864674.1:p.Thr2809Ile | |
| XM_017009186.1:c.7979C>T | XP_016864675.1:p.Thr2660Ile | |
| XM_017009188.1:c.7316C>T | XP_016864677.1:p.Thr2439Ile | |
| XM_024454388.1:c.12242C>T | XP_024310156.1:p.Thr4081Ile | |
| XM_024454389.1:c.11831C>T | XP_024310157.1:p.Thr3944Ile | |
| NM_001369.3:c.13229C>T MANE Select | NP_001360.1:p.Thr4410Ile |