Linked Data
ClinVar Variation Id:
452137
dbSNP Id:
rs199692759
ExAC:
6:75861915 T / A
gnomAD v2:
6-75861915-T-A
gnomAD v3:
6-75152199-T-A
gnomAD v4:
6-75152199-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75152199T>A , CM000668.2:g.75152199T>A | GRCh38 |
| NC_000006.11:g.75861915T>A , CM000668.1:g.75861915T>A | GRCh37 |
| NC_000006.10:g.75918635T>A | NCBI36 |
| NG_042181.1:g.58709A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.3767A>T MANE Select | ENSP00000325146.8:p.His1256Leu | |
| ENST00000322507.12:c.3767A>T | ENSP00000325146.8:p.His1256Leu | |
| ENST00000345356.10:c.275A>T | ENSP00000305147.9:p.His92Leu | |
| ENST00000416123.6:c.3767A>T | ENSP00000412864.2:p.His1256Leu | |
| ENST00000483888.6:c.3767A>T | ENSP00000421216.1:p.His1256Leu | |
| ENST00000615798.4:c.200A>T | ENSP00000483232.1:p.His67Leu | |
| NM_004370.5:c.3767A>T | NP_004361.3:p.His1256Leu | |
| NM_080645.2:c.275A>T | NP_542376.2:p.His92Leu | |
| XM_011535434.1:c.3767A>T | XP_011533736.1:p.His1256Leu | |
| XM_011535435.1:c.3494A>T | XP_011533737.1:p.His1165Leu | |
| XM_011535436.1:c.275A>T | XP_011533738.1:p.His92Leu | |
| XM_011535436.2:c.275A>T | XP_011533738.1:p.His92Leu | |
| XM_017010252.2:c.3731A>T | XP_016865741.1:p.His1244Leu | |
| NM_004370.6:c.3767A>T MANE Select | NP_004361.3:p.His1256Leu | |
| NM_080645.3:c.275A>T | NP_542376.2:p.His92Leu |