Linked Data
ClinVar Variation Id:
475853
dbSNP Id:
rs200698641
ExAC:
6:75875327 G / A
gnomAD v2:
6-75875327-G-A
gnomAD v3:
6-75165611-G-A
gnomAD v4:
6-75165611-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75165611G>A , CM000668.2:g.75165611G>A | GRCh38 |
| NC_000006.11:g.75875327G>A , CM000668.1:g.75875327G>A | GRCh37 |
| NC_000006.10:g.75932047G>A | NCBI36 |
| NG_042181.1:g.45297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.2879C>T MANE Select | ENSP00000325146.8:p.Thr960Met | |
| ENST00000322507.12:c.2879C>T | ENSP00000325146.8:p.Thr960Met | |
| ENST00000345356.10:c.74-13129C>T | ENSP00000305147.9:n.74-13129C>T | |
| ENST00000416123.6:c.2879C>T | ENSP00000412864.2:p.Thr960Met | |
| ENST00000483888.6:c.2879C>T | ENSP00000421216.1:p.Thr960Met | |
| ENST00000615798.4:c.-689C>T | ENSP00000483232.1:n.-689C>T | |
| NM_004370.5:c.2879C>T | NP_004361.3:p.Thr960Met | |
| NM_080645.2:c.74-13129C>T | NP_542376.2:n.74-13129C>T | |
| XM_011535434.1:c.2879C>T | XP_011533736.1:p.Thr960Met | |
| XM_011535435.1:c.2606C>T | XP_011533737.1:p.Thr869Met | |
| XM_011535436.1:c.74-13129C>T | XP_011533738.1:n.74-13129C>T | |
| XM_011535436.2:c.74-13129C>T | XP_011533738.1:n.74-13129C>T | |
| XM_017010252.2:c.2843C>T | XP_016865741.1:p.Thr948Met | |
| NM_004370.6:c.2879C>T MANE Select | NP_004361.3:p.Thr960Met | |
| NM_080645.3:c.74-13129C>T | NP_542376.2:n.74-13129C>T |