Linked Data
ClinVar Variation Id:
451442
dbSNP Id:
rs528319887
ExAC:
6:75865496 G / C
gnomAD v2:
6-75865496-G-C
gnomAD v3:
6-75155780-G-C
gnomAD v4:
6-75155780-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75155780G>C , CM000668.2:g.75155780G>C | GRCh38 |
| NC_000006.11:g.75865496G>C , CM000668.1:g.75865496G>C | GRCh37 |
| NC_000006.10:g.75922216G>C | NCBI36 |
| NG_042181.1:g.55128C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.3325C>G MANE Select | ENSP00000325146.8:p.Pro1109Ala | |
| ENST00000322507.12:c.3325C>G | ENSP00000325146.8:p.Pro1109Ala | |
| ENST00000345356.10:c.74-3298C>G | ENSP00000305147.9:n.74-3298C>G | |
| ENST00000416123.6:c.3325C>G | ENSP00000412864.2:p.Pro1109Ala | |
| ENST00000483888.6:c.3325C>G | ENSP00000421216.1:p.Pro1109Ala | |
| ENST00000615798.4:c.-243C>G | ENSP00000483232.1:n.-243C>G | |
| NM_004370.5:c.3325C>G | NP_004361.3:p.Pro1109Ala | |
| NM_080645.2:c.74-3298C>G | NP_542376.2:n.74-3298C>G | |
| XM_011535434.1:c.3325C>G | XP_011533736.1:p.Pro1109Ala | |
| XM_011535435.1:c.3052C>G | XP_011533737.1:p.Pro1018Ala | |
| XM_011535436.1:c.74-3298C>G | XP_011533738.1:n.74-3298C>G | |
| XM_011535436.2:c.74-3298C>G | XP_011533738.1:n.74-3298C>G | |
| XM_017010252.2:c.3289C>G | XP_016865741.1:p.Pro1097Ala | |
| NM_004370.6:c.3325C>G MANE Select | NP_004361.3:p.Pro1109Ala | |
| NM_080645.3:c.74-3298C>G | NP_542376.2:n.74-3298C>G |