Linked Data
dbSNP Id:
rs1223328273
gnomAD v2:
9-139399428-C-T
gnomAD v4:
9-136504976-C-T
COSMIC:
COSM5030961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504976C>T , CM000671.2:g.136504976C>T | GRCh38 |
| NC_000009.11:g.139399428C>T , CM000671.1:g.139399428C>T | GRCh37 |
| NC_000009.10:g.138519249C>T | NCBI36 |
| NG_007458.1:g.45811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2522G>A | ||
| ENST00000651671.1:c.4715G>A MANE Select | ENSP00000498587.1:p.Gly1572Asp | |
| ENST00000679595.1:c.4715G>A | ENSP00000506241.1:p.Gly1572Asp | |
| ENST00000680133.1:c.4601G>A | ENSP00000505319.1:p.Gly1534Asp | |
| ENST00000680218.1:c.4595G>A | ENSP00000505339.1:p.Gly1532Asp | |
| ENST00000680668.1:c.4601G>A | ENSP00000506336.1:p.Gly1534Asp | |
| ENST00000680778.1:c.2312G>A | ENSP00000506033.1:p.Gly771Asp | |
| ENST00000680924.1:c.*2115G>A | ENSP00000506031.1:n.*2115G>A | |
| ENST00000681135.1:c.*2324G>A | ENSP00000506636.1:n.*2324G>A | |
| ENST00000681298.1:n.1528G>A | ||
| ENST00000681454.1:c.*3951G>A | ENSP00000505763.1:n.*3951G>A | |
| ENST00000277541.6:c.4715G>A | ENSP00000277541.6:p.Gly1572Asp | |
| NM_017617.3:c.4715G>A | NP_060087.3:p.Gly1572Asp | |
| XM_011518717.1:c.4016G>A | XP_011517019.1:p.Gly1339Asp | |
| NM_017617.5:c.4715G>A MANE Select | NP_060087.3:p.Gly1572Asp | |
| XM_011518717.2:c.3992G>A | XP_011517019.2:p.Gly1331Asp |