Linked Data
ClinVar Variation Id:
264333
dbSNP Id:
rs774068657
ExAC:
9:139399491 C / A
gnomAD v2:
9-139399491-C-A
gnomAD v3:
9-136505039-C-A
gnomAD v4:
9-136505039-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136505039C>A , CM000671.2:g.136505039C>A | GRCh38 |
| NC_000009.11:g.139399491C>A , CM000671.1:g.139399491C>A | GRCh37 |
| NC_000009.10:g.138519312C>A | NCBI36 |
| NG_007458.1:g.45748G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2459G>T | ||
| ENST00000651671.1:c.4652G>T MANE Select | ENSP00000498587.1:p.Ser1551Ile | |
| ENST00000679595.1:c.4652G>T | ENSP00000506241.1:p.Ser1551Ile | |
| ENST00000680133.1:c.4538G>T | ENSP00000505319.1:p.Ser1513Ile | |
| ENST00000680218.1:c.4532G>T | ENSP00000505339.1:p.Ser1511Ile | |
| ENST00000680668.1:c.4538G>T | ENSP00000506336.1:p.Ser1513Ile | |
| ENST00000680778.1:c.2249G>T | ENSP00000506033.1:p.Ser750Ile | |
| ENST00000680924.1:c.*2052G>T | ENSP00000506031.1:n.*2052G>T | |
| ENST00000681135.1:c.*2261G>T | ENSP00000506636.1:n.*2261G>T | |
| ENST00000681298.1:n.1465G>T | ||
| ENST00000681454.1:c.*3888G>T | ENSP00000505763.1:n.*3888G>T | |
| ENST00000277541.6:c.4652G>T | ENSP00000277541.6:p.Ser1551Ile | |
| NM_017617.3:c.4652G>T | NP_060087.3:p.Ser1551Ile | |
| XM_011518717.1:c.3953G>T | XP_011517019.1:p.Ser1318Ile | |
| NM_017617.5:c.4652G>T MANE Select | NP_060087.3:p.Ser1551Ile | |
| XM_011518717.2:c.3929G>T | XP_011517019.2:p.Ser1310Ile |