Linked Data
ClinVar Variation Id:
522739
dbSNP Id:
rs1235556906
gnomAD v2:
6-75892897-A-G
gnomAD v4:
6-75183181-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75183181A>G , CM000668.2:g.75183181A>G | GRCh38 |
| NC_000006.11:g.75892897A>G , CM000668.1:g.75892897A>G | GRCh37 |
| NC_000006.10:g.75949617A>G | NCBI36 |
| NG_042181.1:g.27727T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.1760T>C MANE Select | ENSP00000325146.8:p.Ile587Thr | |
| ENST00000322507.12:c.1760T>C | ENSP00000325146.8:p.Ile587Thr | |
| ENST00000345356.10:c.73+19539T>C | ENSP00000305147.9:n.73+19539T>C | |
| ENST00000416123.6:c.1760T>C | ENSP00000412864.2:p.Ile587Thr | |
| ENST00000483888.6:c.1760T>C | ENSP00000421216.1:p.Ile587Thr | |
| ENST00000486533.1:n.866T>C | ||
| ENST00000615798.4:c.-1808T>C | ENSP00000483232.1:n.-1808T>C | |
| NM_004370.5:c.1760T>C | NP_004361.3:p.Ile587Thr | |
| NM_080645.2:c.73+19539T>C | NP_542376.2:n.73+19539T>C | |
| XM_011535434.1:c.1760T>C | XP_011533736.1:p.Ile587Thr | |
| XM_011535435.1:c.1760T>C | XP_011533737.1:p.Ile587Thr | |
| XM_011535436.1:c.73+19539T>C | XP_011533738.1:n.73+19539T>C | |
| XM_011535436.2:c.73+19539T>C | XP_011533738.1:n.73+19539T>C | |
| XM_017010252.2:c.1724T>C | XP_016865741.1:p.Ile575Thr | |
| NM_004370.6:c.1760T>C MANE Select | NP_004361.3:p.Ile587Thr | |
| NM_080645.3:c.73+19539T>C | NP_542376.2:n.73+19539T>C |