Linked Data
ClinVar Variation Id:
475877
dbSNP Id:
rs201408175
ExAC:
6:75844499 C / T
gnomAD v2:
6-75844499-C-T
gnomAD v3:
6-75134783-C-T
gnomAD v4:
6-75134783-C-T
COSMIC:
COSM1081682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75134783C>T , CM000668.2:g.75134783C>T | GRCh38 |
| NC_000006.11:g.75844499C>T , CM000668.1:g.75844499C>T | GRCh37 |
| NC_000006.10:g.75901219C>T | NCBI36 |
| NG_042181.1:g.76125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5467G>A MANE Select | ENSP00000325146.8:p.Val1823Ile | |
| ENST00000322507.12:c.5467G>A | ENSP00000325146.8:p.Val1823Ile | |
| ENST00000345356.10:c.1975G>A | ENSP00000305147.9:p.Val659Ile | |
| ENST00000416123.6:c.5467G>A | ENSP00000412864.2:p.Val1823Ile | |
| ENST00000419671.1:c.1670G>A | ||
| ENST00000483888.6:c.5467G>A | ENSP00000421216.1:p.Val1823Ile | |
| ENST00000615798.4:c.1900G>A | ENSP00000483232.1:p.Val634Ile | |
| NM_004370.5:c.5467G>A | NP_004361.3:p.Val1823Ile | |
| NM_080645.2:c.1975G>A | NP_542376.2:p.Val659Ile | |
| XM_011535434.1:c.5467G>A | XP_011533736.1:p.Val1823Ile | |
| XM_011535435.1:c.5194G>A | XP_011533737.1:p.Val1732Ile | |
| XM_011535436.1:c.1975G>A | XP_011533738.1:p.Val659Ile | |
| XM_011535436.2:c.1975G>A | XP_011533738.1:p.Val659Ile | |
| XM_017010252.2:c.5431G>A | XP_016865741.1:p.Val1811Ile | |
| NM_004370.6:c.5467G>A MANE Select | NP_004361.3:p.Val1823Ile | |
| NM_080645.3:c.1975G>A | NP_542376.2:p.Val659Ile |