Linked Data
ClinVar Variation Id:
452138
dbSNP Id:
rs373637483
ExAC:
6:75865438 C / T
gnomAD v2:
6-75865438-C-T
gnomAD v3:
6-75155722-C-T
gnomAD v4:
6-75155722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75155722C>T , CM000668.2:g.75155722C>T | GRCh38 |
| NC_000006.11:g.75865438C>T , CM000668.1:g.75865438C>T | GRCh37 |
| NC_000006.10:g.75922158C>T | NCBI36 |
| NG_042181.1:g.55186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.3383G>A MANE Select | ENSP00000325146.8:p.Arg1128Lys | |
| ENST00000322507.12:c.3383G>A | ENSP00000325146.8:p.Arg1128Lys | |
| ENST00000345356.10:c.74-3240G>A | ENSP00000305147.9:n.74-3240G>A | |
| ENST00000416123.6:c.3383G>A | ENSP00000412864.2:p.Arg1128Lys | |
| ENST00000483888.6:c.3383G>A | ENSP00000421216.1:p.Arg1128Lys | |
| ENST00000615798.4:c.-185G>A | ENSP00000483232.1:n.-185G>A | |
| NM_004370.5:c.3383G>A | NP_004361.3:p.Arg1128Lys | |
| NM_080645.2:c.74-3240G>A | NP_542376.2:n.74-3240G>A | |
| XM_011535434.1:c.3383G>A | XP_011533736.1:p.Arg1128Lys | |
| XM_011535435.1:c.3110G>A | XP_011533737.1:p.Arg1037Lys | |
| XM_011535436.1:c.74-3240G>A | XP_011533738.1:n.74-3240G>A | |
| XM_011535436.2:c.74-3240G>A | XP_011533738.1:n.74-3240G>A | |
| XM_017010252.2:c.3347G>A | XP_016865741.1:p.Arg1116Lys | |
| NM_004370.6:c.3383G>A MANE Select | NP_004361.3:p.Arg1128Lys | |
| NM_080645.3:c.74-3240G>A | NP_542376.2:n.74-3240G>A |