Linked Data
ClinVar Variation Id:
475876
dbSNP Id:
rs201973949
ExAC:
6:75844556 G / A
gnomAD v2:
6-75844556-G-A
gnomAD v3:
6-75134840-G-A
gnomAD v4:
6-75134840-G-A
COSMIC:
COSM1445945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75134840G>A , CM000668.2:g.75134840G>A | GRCh38 |
| NC_000006.11:g.75844556G>A , CM000668.1:g.75844556G>A | GRCh37 |
| NC_000006.10:g.75901276G>A | NCBI36 |
| NG_042181.1:g.76068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5410C>T MANE Select | ENSP00000325146.8:p.Arg1804Trp | |
| ENST00000322507.12:c.5410C>T | ENSP00000325146.8:p.Arg1804Trp | |
| ENST00000345356.10:c.1918C>T | ENSP00000305147.9:p.Arg640Trp | |
| ENST00000416123.6:c.5410C>T | ENSP00000412864.2:p.Arg1804Trp | |
| ENST00000419671.1:c.1613C>T | ||
| ENST00000483888.6:c.5410C>T | ENSP00000421216.1:p.Arg1804Trp | |
| ENST00000615798.4:c.1843C>T | ENSP00000483232.1:p.Arg615Trp | |
| NM_004370.5:c.5410C>T | NP_004361.3:p.Arg1804Trp | |
| NM_080645.2:c.1918C>T | NP_542376.2:p.Arg640Trp | |
| XM_011535434.1:c.5410C>T | XP_011533736.1:p.Arg1804Trp | |
| XM_011535435.1:c.5137C>T | XP_011533737.1:p.Arg1713Trp | |
| XM_011535436.1:c.1918C>T | XP_011533738.1:p.Arg640Trp | |
| XM_011535436.2:c.1918C>T | XP_011533738.1:p.Arg640Trp | |
| XM_017010252.2:c.5374C>T | XP_016865741.1:p.Arg1792Trp | |
| NM_004370.6:c.5410C>T MANE Select | NP_004361.3:p.Arg1804Trp | |
| NM_080645.3:c.1918C>T | NP_542376.2:p.Arg640Trp |