Linked Data
ClinVar Variation Id:
501329
dbSNP Id:
rs147051900
ExAC:
6:51483906 G / A
gnomAD v2:
6-51483906-G-A
gnomAD v3:
6-51619108-G-A
gnomAD v4:
6-51619108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619108G>A , CM000668.2:g.51619108G>A | GRCh38 |
| NC_000006.11:g.51483906G>A , CM000668.1:g.51483906G>A | GRCh37 |
| NC_000006.10:g.51591865G>A | NCBI36 |
| NG_008753.1:g.473518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.12198C>T MANE Select | ENSP00000360158.3:p.His4066= | |
| ENST00000371117.7:c.12198C>T | ENSP00000360158.3:p.His4066= | |
| NM_138694.3:c.12198C>T | NP_619639.3:p.His4066= | |
| XM_011514679.1:c.12198C>T | XP_011512981.1:p.His4066= | |
| XM_011514680.1:c.12198C>T | XP_011512982.1:p.His4066= | |
| XM_011514681.1:c.12069C>T | XP_011512983.1:p.His4023= | |
| XM_011514682.1:c.12060C>T | XP_011512984.1:p.His4020= | |
| XM_011514683.1:c.11556C>T | XP_011512985.1:p.His3852= | |
| XM_011514684.1:c.11487C>T | XP_011512986.1:p.His3829= | |
| XM_011514690.1:c.6273C>T | XP_011512992.1:p.His2091= | |
| XM_011514691.1:c.6273C>T | XP_011512993.1:p.His2091= | |
| XM_011514680.3:c.12198C>T | XP_011512982.1:p.His4066= | |
| XM_011514682.3:c.12060C>T | XP_011512984.1:p.His4020= | |
| XM_011514683.3:c.11556C>T | XP_011512985.1:p.His3852= | |
| XM_011514684.3:c.11487C>T | XP_011512986.1:p.His3829= | |
| XM_011514690.3:c.6273C>T | XP_011512992.1:p.His2091= | |
| XM_011514691.3:c.6273C>T | XP_011512993.1:p.His2091= | |
| XM_017010944.2:c.12198C>T | XP_016866433.1:p.His4066= | |
| XM_017010945.2:c.12123C>T | XP_016866434.1:p.His4041= | |
| XM_017010946.2:c.12003C>T | XP_016866435.1:p.His4001= | |
| XM_017010947.2:c.11934C>T | XP_016866436.1:p.His3978= | |
| XM_017010948.2:c.11487C>T | XP_016866437.1:p.His3829= | |
| XM_017010949.2:c.10338C>T | XP_016866438.1:p.His3446= | |
| NM_138694.4:c.12198C>T MANE Select | NP_619639.3:p.His4066= |