Linked Data
dbSNP Id:
rs758692403
ExAC:
9:139399379 G / A
gnomAD v2:
9-139399379-G-A
gnomAD v4:
9-136504927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504927G>A , CM000671.2:g.136504927G>A | GRCh38 |
| NC_000009.11:g.139399379G>A , CM000671.1:g.139399379G>A | GRCh37 |
| NC_000009.10:g.138519200G>A | NCBI36 |
| NG_007458.1:g.45860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2571C>T | ||
| ENST00000651671.1:c.4764C>T MANE Select | ENSP00000498587.1:p.Ser1588= | |
| ENST00000679595.1:c.4764C>T | ENSP00000506241.1:p.Ser1588= | |
| ENST00000680133.1:c.4650C>T | ENSP00000505319.1:p.Ser1550= | |
| ENST00000680218.1:c.4644C>T | ENSP00000505339.1:p.Ser1548= | |
| ENST00000680668.1:c.4650C>T | ENSP00000506336.1:p.Ser1550= | |
| ENST00000680778.1:c.2361C>T | ENSP00000506033.1:p.Ser787= | |
| ENST00000680924.1:c.*2164C>T | ENSP00000506031.1:n.*2164C>T | |
| ENST00000681135.1:c.*2373C>T | ENSP00000506636.1:n.*2373C>T | |
| ENST00000681298.1:n.1577C>T | ||
| ENST00000681454.1:c.*4000C>T | ENSP00000505763.1:n.*4000C>T | |
| ENST00000277541.6:c.4764C>T | ENSP00000277541.6:p.Ser1588= | |
| NM_017617.3:c.4764C>T | NP_060087.3:p.Ser1588= | |
| XM_011518717.1:c.4065C>T | XP_011517019.1:p.Ser1355= | |
| NM_017617.5:c.4764C>T MANE Select | NP_060087.3:p.Ser1588= | |
| XM_011518717.2:c.4041C>T | XP_011517019.2:p.Ser1347= |