Linked Data
ClinVar Variation Id:
426164
dbSNP Id:
rs530680231
ExAC:
6:75848170 G / A
gnomAD v2:
6-75848170-G-A
gnomAD v3:
6-75138454-G-A
gnomAD v4:
6-75138454-G-A
COSMIC:
COSM122266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75138454G>A , CM000668.2:g.75138454G>A | GRCh38 |
| NC_000006.11:g.75848170G>A , CM000668.1:g.75848170G>A | GRCh37 |
| NC_000006.10:g.75904890G>A | NCBI36 |
| NG_042181.1:g.72454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5224C>T MANE Select | ENSP00000325146.8:p.Arg1742Cys | |
| ENST00000322507.12:c.5224C>T | ENSP00000325146.8:p.Arg1742Cys | |
| ENST00000345356.10:c.1732C>T | ENSP00000305147.9:p.Arg578Cys | |
| ENST00000416123.6:c.5224C>T | ENSP00000412864.2:p.Arg1742Cys | |
| ENST00000419671.1:c.1448C>T | ||
| ENST00000483888.6:c.5224C>T | ENSP00000421216.1:p.Arg1742Cys | |
| ENST00000615798.4:c.1657C>T | ENSP00000483232.1:p.Arg553Cys | |
| NM_004370.5:c.5224C>T | NP_004361.3:p.Arg1742Cys | |
| NM_080645.2:c.1732C>T | NP_542376.2:p.Arg578Cys | |
| XM_011535434.1:c.5224C>T | XP_011533736.1:p.Arg1742Cys | |
| XM_011535435.1:c.4951C>T | XP_011533737.1:p.Arg1651Cys | |
| XM_011535436.1:c.1732C>T | XP_011533738.1:p.Arg578Cys | |
| XM_011535436.2:c.1732C>T | XP_011533738.1:p.Arg578Cys | |
| XM_017010252.2:c.5188C>T | XP_016865741.1:p.Arg1730Cys | |
| NM_004370.6:c.5224C>T MANE Select | NP_004361.3:p.Arg1742Cys | |
| NM_080645.3:c.1732C>T | NP_542376.2:p.Arg578Cys |