Linked Data
ClinVar Variation Id:
257996
dbSNP Id:
rs151145750
ExAC:
5:13719123 G / A
gnomAD v2:
5-13719123-G-A
gnomAD v3:
5-13719014-G-A
gnomAD v4:
5-13719014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13719014G>A , CM000667.2:g.13719014G>A | GRCh38 |
| NC_000005.9:g.13719123G>A , CM000667.1:g.13719123G>A | GRCh37 |
| NC_000005.8:g.13772123G>A | NCBI36 |
| NG_013081.1:g.230467C>T | |
| NG_013081.2:g.230467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12367C>T MANE Select | ENSP00000265104.4:p.His4123Tyr | |
| ENST00000681290.1:c.12322C>T | ENSP00000505288.1:p.His4108Tyr | |
| ENST00000265104.4:c.12367C>T | ENSP00000265104.4:p.His4123Tyr | |
| NM_001369.2:c.12367C>T | NP_001360.1:p.His4123Tyr | |
| XM_005248262.2:c.12322C>T | XP_005248319.1:p.His4108Tyr | |
| XM_005248262.3:c.12475C>T | XP_005248319.2:p.His4159Tyr | |
| XM_017009177.1:c.12475C>T | XP_016864666.1:p.His4159Tyr | |
| XM_017009178.1:c.11380C>T | XP_016864667.1:p.His3794Tyr | |
| XM_017009179.2:c.11380C>T | XP_016864668.1:p.His3794Tyr | |
| XM_017009180.1:c.12475C>T | XP_016864669.1:p.His4159Tyr | |
| XM_017009185.1:c.7564C>T | XP_016864674.1:p.His2522Tyr | |
| XM_017009186.1:c.7117C>T | XP_016864675.1:p.His2373Tyr | |
| XM_017009188.1:c.6454C>T | XP_016864677.1:p.His2152Tyr | |
| XM_024454388.1:c.11380C>T | XP_024310156.1:p.His3794Tyr | |
| XM_024454389.1:c.10969C>T | XP_024310157.1:p.His3657Tyr | |
| NM_001369.3:c.12367C>T MANE Select | NP_001360.1:p.His4123Tyr |