Linked Data
ClinVar Variation Id:
475849
dbSNP Id:
rs200315815
ExAC:
6:75890922 C / A
gnomAD v2:
6-75890922-C-A
gnomAD v3:
6-75181206-C-A
gnomAD v4:
6-75181206-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75181206C>A , CM000668.2:g.75181206C>A | GRCh38 |
| NC_000006.11:g.75890922C>A , CM000668.1:g.75890922C>A | GRCh37 |
| NC_000006.10:g.75947642C>A | NCBI36 |
| NG_042181.1:g.29702G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.1897G>T MANE Select | ENSP00000325146.8:p.Val633Phe | |
| ENST00000322507.12:c.1897G>T | ENSP00000325146.8:p.Val633Phe | |
| ENST00000345356.10:c.73+21514G>T | ENSP00000305147.9:n.73+21514G>T | |
| ENST00000416123.6:c.1897G>T | ENSP00000412864.2:p.Val633Phe | |
| ENST00000483888.6:c.1897G>T | ENSP00000421216.1:p.Val633Phe | |
| ENST00000486533.1:n.1003G>T | ||
| ENST00000615798.4:c.-1671G>T | ENSP00000483232.1:n.-1671G>T | |
| NM_004370.5:c.1897G>T | NP_004361.3:p.Val633Phe | |
| NM_080645.2:c.73+21514G>T | NP_542376.2:n.73+21514G>T | |
| XM_011535434.1:c.1897G>T | XP_011533736.1:p.Val633Phe | |
| XM_011535435.1:c.1897G>T | XP_011533737.1:p.Val633Phe | |
| XM_011535436.1:c.73+21514G>T | XP_011533738.1:n.73+21514G>T | |
| XM_011535436.2:c.73+21514G>T | XP_011533738.1:n.73+21514G>T | |
| XM_017010252.2:c.1861G>T | XP_016865741.1:p.Val621Phe | |
| NM_004370.6:c.1897G>T MANE Select | NP_004361.3:p.Val633Phe | |
| NM_080645.3:c.73+21514G>T | NP_542376.2:n.73+21514G>T |