Linked Data
ClinVar Variation Id:
542511
dbSNP Id:
rs186328815
ExAC:
6:75811764 C / T
gnomAD v2:
6-75811764-C-T
gnomAD v3:
6-75102048-C-T
gnomAD v4:
6-75102048-C-T
COSMIC:
COSM1081647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75102048C>T , CM000668.2:g.75102048C>T | GRCh38 |
| NC_000006.11:g.75811764C>T , CM000668.1:g.75811764C>T | GRCh37 |
| NC_000006.10:g.75868484C>T | NCBI36 |
| NG_042181.1:g.108860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.8420G>A MANE Select | ENSP00000325146.8:p.Arg2807His | |
| ENST00000322507.12:c.8420G>A | ENSP00000325146.8:p.Arg2807His | |
| ENST00000345356.10:c.4928G>A | ENSP00000305147.9:p.Arg1643His | |
| ENST00000416123.6:c.8192G>A | ENSP00000412864.2:p.Arg2731His | |
| ENST00000425443.6:c.1334G>A | ENSP00000399812.2:p.Arg445His | |
| ENST00000483888.6:c.8420G>A | ENSP00000421216.1:p.Arg2807His | |
| ENST00000615798.4:c.4853G>A | ENSP00000483232.1:p.Arg1618His | |
| NM_004370.5:c.8420G>A | NP_004361.3:p.Arg2807His | |
| NM_080645.2:c.4928G>A | NP_542376.2:p.Arg1643His | |
| XM_011535434.1:c.8420G>A | XP_011533736.1:p.Arg2807His | |
| XM_011535435.1:c.8147G>A | XP_011533737.1:p.Arg2716His | |
| XM_011535436.1:c.4928G>A | XP_011533738.1:p.Arg1643His | |
| XM_011535436.2:c.4928G>A | XP_011533738.1:p.Arg1643His | |
| XM_017010252.2:c.8384G>A | XP_016865741.1:p.Arg2795His | |
| NM_004370.6:c.8420G>A MANE Select | NP_004361.3:p.Arg2807His | |
| NM_080645.3:c.4928G>A | NP_542376.2:p.Arg1643His |