Linked Data
ClinVar Variation Id:
475893
dbSNP Id:
rs141593495
ExAC:
6:75828890 G / A
gnomAD v2:
6-75828890-G-A
gnomAD v3:
6-75119174-G-A
gnomAD v4:
6-75119174-G-A
COSMIC:
COSM310215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75119174G>A , CM000668.2:g.75119174G>A | GRCh38 |
| NC_000006.11:g.75828890G>A , CM000668.1:g.75828890G>A | GRCh37 |
| NC_000006.10:g.75885610G>A | NCBI36 |
| NG_042181.1:g.91734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.7223C>T MANE Select | ENSP00000325146.8:p.Thr2408Met | |
| ENST00000322507.12:c.7223C>T | ENSP00000325146.8:p.Thr2408Met | |
| ENST00000345356.10:c.3731C>T | ENSP00000305147.9:p.Thr1244Met | |
| ENST00000416123.6:c.7223C>T | ENSP00000412864.2:p.Thr2408Met | |
| ENST00000425443.6:c.137C>T | ENSP00000399812.2:p.Thr46Met | |
| ENST00000483888.6:c.7223C>T | ENSP00000421216.1:p.Thr2408Met | |
| ENST00000615798.4:c.3656C>T | ENSP00000483232.1:p.Thr1219Met | |
| NM_004370.5:c.7223C>T | NP_004361.3:p.Thr2408Met | |
| NM_080645.2:c.3731C>T | NP_542376.2:p.Thr1244Met | |
| XM_011535434.1:c.7223C>T | XP_011533736.1:p.Thr2408Met | |
| XM_011535435.1:c.6950C>T | XP_011533737.1:p.Thr2317Met | |
| XM_011535436.1:c.3731C>T | XP_011533738.1:p.Thr1244Met | |
| XM_011535436.2:c.3731C>T | XP_011533738.1:p.Thr1244Met | |
| XM_017010252.2:c.7187C>T | XP_016865741.1:p.Thr2396Met | |
| NM_004370.6:c.7223C>T MANE Select | NP_004361.3:p.Thr2408Met | |
| NM_080645.3:c.3731C>T | NP_542376.2:p.Thr1244Met |