Linked Data
ClinVar Variation Id:
475905
dbSNP Id:
rs185171880
ExAC:
6:75804834 T / C
gnomAD v2:
6-75804834-T-C
gnomAD v3:
6-75095118-T-C
gnomAD v4:
6-75095118-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75095118T>C , CM000668.2:g.75095118T>C | GRCh38 |
| NC_000006.11:g.75804834T>C , CM000668.1:g.75804834T>C | GRCh37 |
| NC_000006.10:g.75861554T>C | NCBI36 |
| NG_042181.1:g.115790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.8639A>G MANE Select | ENSP00000325146.8:p.His2880Arg | |
| ENST00000322507.12:c.8639A>G | ENSP00000325146.8:p.His2880Arg | |
| ENST00000345356.10:c.5147A>G | ENSP00000305147.9:p.His1716Arg | |
| ENST00000416123.6:c.8411A>G | ENSP00000412864.2:p.His2804Arg | |
| ENST00000425443.6:c.1553A>G | ENSP00000399812.2:p.His518Arg | |
| ENST00000483888.6:c.8627A>G | ENSP00000421216.1:p.His2876Arg | |
| ENST00000511023.1:n.254A>G | ||
| ENST00000615798.4:c.5072A>G | ENSP00000483232.1:p.His1691Arg | |
| NM_004370.5:c.8639A>G | NP_004361.3:p.His2880Arg | |
| NM_080645.2:c.5147A>G | NP_542376.2:p.His1716Arg | |
| XM_011535434.1:c.8639A>G | XP_011533736.1:p.His2880Arg | |
| XM_011535435.1:c.8366A>G | XP_011533737.1:p.His2789Arg | |
| XM_011535436.1:c.5147A>G | XP_011533738.1:p.His1716Arg | |
| XM_011535436.2:c.5147A>G | XP_011533738.1:p.His1716Arg | |
| XM_017010252.2:c.8603A>G | XP_016865741.1:p.His2868Arg | |
| NM_004370.6:c.8639A>G MANE Select | NP_004361.3:p.His2880Arg | |
| NM_080645.3:c.5147A>G | NP_542376.2:p.His1716Arg |