Linked Data
ClinVar Variation Id:
525339
dbSNP Id:
rs376067762
ExAC:
5:13752394 G / A
gnomAD v2:
5-13752394-G-A
gnomAD v4:
5-13752285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752285G>A , CM000667.2:g.13752285G>A | GRCh38 |
| NC_000005.9:g.13752394G>A , CM000667.1:g.13752394G>A | GRCh37 |
| NC_000005.8:g.13805394G>A | NCBI36 |
| NG_013081.1:g.197196C>T | |
| NG_013081.2:g.197196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10877C>T MANE Select | ENSP00000265104.4:p.Thr3626Met | |
| ENST00000681290.1:c.10832C>T | ENSP00000505288.1:p.Thr3611Met | |
| ENST00000265104.4:c.10877C>T | ENSP00000265104.4:p.Thr3626Met | |
| NM_001369.2:c.10877C>T | NP_001360.1:p.Thr3626Met | |
| XM_005248262.2:c.10832C>T | XP_005248319.1:p.Thr3611Met | |
| XM_005248262.3:c.10985C>T | XP_005248319.2:p.Thr3662Met | |
| XM_017009177.1:c.10985C>T | XP_016864666.1:p.Thr3662Met | |
| XM_017009178.1:c.9890C>T | XP_016864667.1:p.Thr3297Met | |
| XM_017009179.2:c.9890C>T | XP_016864668.1:p.Thr3297Met | |
| XM_017009180.1:c.10985C>T | XP_016864669.1:p.Thr3662Met | |
| XM_017009181.1:c.10985C>T | XP_016864670.1:p.Thr3662Met | |
| XM_017009182.1:c.10985C>T | XP_016864671.1:p.Thr3662Met | |
| XM_017009185.1:c.6074C>T | XP_016864674.1:p.Thr2025Met | |
| XM_017009186.1:c.5627C>T | XP_016864675.1:p.Thr1876Met | |
| XM_017009188.1:c.4964C>T | XP_016864677.1:p.Thr1655Met | |
| XM_024454388.1:c.9890C>T | XP_024310156.1:p.Thr3297Met | |
| XM_024454389.1:c.9479C>T | XP_024310157.1:p.Thr3160Met | |
| NM_001369.3:c.10877C>T MANE Select | NP_001360.1:p.Thr3626Met |