Linked Data
dbSNP Id:
rs757260114
gnomAD v2:
9-139399243-C-A
gnomAD v4:
9-136504791-C-A
COSMIC:
COSM33755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504791C>A , CM000671.2:g.136504791C>A | GRCh38 |
| NC_000009.11:g.139399243C>A , CM000671.1:g.139399243C>A | GRCh37 |
| NC_000009.10:g.138519064C>A | NCBI36 |
| NG_007458.1:g.45996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2707G>T | ||
| ENST00000651671.1:c.4900G>T MANE Select | ENSP00000498587.1:p.Ala1634Ser | |
| ENST00000679595.1:c.4900G>T | ENSP00000506241.1:p.Ala1634Ser | |
| ENST00000680133.1:c.4786G>T | ENSP00000505319.1:p.Ala1596Ser | |
| ENST00000680218.1:c.4780G>T | ENSP00000505339.1:p.Ala1594Ser | |
| ENST00000680668.1:c.4786G>T | ENSP00000506336.1:p.Ala1596Ser | |
| ENST00000680778.1:c.2497G>T | ENSP00000506033.1:p.Ala833Ser | |
| ENST00000680924.1:c.*2300G>T | ENSP00000506031.1:n.*2300G>T | |
| ENST00000681135.1:c.*2509G>T | ENSP00000506636.1:n.*2509G>T | |
| ENST00000681298.1:n.1713G>T | ||
| ENST00000681454.1:c.*4136G>T | ENSP00000505763.1:n.*4136G>T | |
| ENST00000277541.6:c.4900G>T | ENSP00000277541.6:p.Ala1634Ser | |
| ENST00000494783.1:n.55G>T | ||
| NM_017617.3:c.4900G>T | NP_060087.3:p.Ala1634Ser | |
| XM_011518717.1:c.4201G>T | XP_011517019.1:p.Ala1401Ser | |
| NM_017617.5:c.4900G>T MANE Select | NP_060087.3:p.Ala1634Ser | |
| XM_011518717.2:c.4177G>T | XP_011517019.2:p.Ala1393Ser |