Linked Data
ClinVar Variation Id:
238960
dbSNP Id:
rs148123430
ExAC:
5:13717606 C / T
gnomAD v2:
5-13717606-C-T
gnomAD v3:
5-13717497-C-T
gnomAD v4:
5-13717497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13717497C>T , CM000667.2:g.13717497C>T | GRCh38 |
| NC_000005.9:g.13717606C>T , CM000667.1:g.13717606C>T | GRCh37 |
| NC_000005.8:g.13770606C>T | NCBI36 |
| NG_013081.1:g.231984G>A | |
| NG_013081.2:g.231984G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.12523G>A MANE Select | ENSP00000265104.4:p.Val4175Met | |
| ENST00000681290.1:c.12478G>A | ENSP00000505288.1:p.Val4160Met | |
| ENST00000265104.4:c.12523G>A | ENSP00000265104.4:p.Val4175Met | |
| NM_001369.2:c.12523G>A | NP_001360.1:p.Val4175Met | |
| XM_005248262.2:c.12478G>A | XP_005248319.1:p.Val4160Met | |
| XM_005248262.3:c.12631G>A | XP_005248319.2:p.Val4211Met | |
| XM_017009177.1:c.12631G>A | XP_016864666.1:p.Val4211Met | |
| XM_017009178.1:c.11536G>A | XP_016864667.1:p.Val3846Met | |
| XM_017009179.2:c.11536G>A | XP_016864668.1:p.Val3846Met | |
| XM_017009180.1:c.12631G>A | XP_016864669.1:p.Val4211Met | |
| XM_017009185.1:c.7720G>A | XP_016864674.1:p.Val2574Met | |
| XM_017009186.1:c.7273G>A | XP_016864675.1:p.Val2425Met | |
| XM_017009188.1:c.6610G>A | XP_016864677.1:p.Val2204Met | |
| XM_024454388.1:c.11536G>A | XP_024310156.1:p.Val3846Met | |
| XM_024454389.1:c.11125G>A | XP_024310157.1:p.Val3709Met | |
| NM_001369.3:c.12523G>A MANE Select | NP_001360.1:p.Val4175Met |