Linked Data
ClinVar Variation Id:
3066370
ClinVar RCV Id:
RCV003991374
dbSNP Id:
rs1768492753
gnomAD v4:
6-75105252-G-T
COSMIC:
COSM743138
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75105252G>T , CM000668.2:g.75105252G>T | GRCh38 |
| NC_000006.11:g.75814968G>T , CM000668.1:g.75814968G>T | GRCh37 |
| NC_000006.10:g.75871688G>T | NCBI36 |
| NG_042181.1:g.105656C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.8219C>A MANE Select | ENSP00000325146.8:p.Thr2740Lys | |
| ENST00000322507.12:c.8219C>A | ENSP00000325146.8:p.Thr2740Lys | |
| ENST00000345356.10:c.4727C>A | ENSP00000305147.9:p.Thr1576Lys | |
| ENST00000416123.6:c.7991C>A | ENSP00000412864.2:p.Thr2664Lys | |
| ENST00000425443.6:c.1133C>A | ENSP00000399812.2:p.Thr378Lys | |
| ENST00000483888.6:c.8219C>A | ENSP00000421216.1:p.Thr2740Lys | |
| ENST00000615798.4:c.4652C>A | ENSP00000483232.1:p.Thr1551Lys | |
| NM_004370.5:c.8219C>A | NP_004361.3:p.Thr2740Lys | |
| NM_080645.2:c.4727C>A | NP_542376.2:p.Thr1576Lys | |
| XM_011535434.1:c.8219C>A | XP_011533736.1:p.Thr2740Lys | |
| XM_011535435.1:c.7946C>A | XP_011533737.1:p.Thr2649Lys | |
| XM_011535436.1:c.4727C>A | XP_011533738.1:p.Thr1576Lys | |
| XM_011535436.2:c.4727C>A | XP_011533738.1:p.Thr1576Lys | |
| XM_017010252.2:c.8183C>A | XP_016865741.1:p.Thr2728Lys | |
| NM_004370.6:c.8219C>A MANE Select | NP_004361.3:p.Thr2740Lys | |
| NM_080645.3:c.4727C>A | NP_542376.2:p.Thr1576Lys |