Linked Data
dbSNP Id:
rs771741598
gnomAD v2:
19-39068811-G-A
gnomAD v3:
19-38578171-G-A
gnomAD v4:
19-38578171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578171G>A , CM000681.2:g.38578171G>A | GRCh38 |
| NC_000019.9:g.39068811G>A , CM000681.1:g.39068811G>A | GRCh37 |
| NC_000019.8:g.43760651G>A | NCBI36 |
| NG_008866.1:g.149472G>A , LRG_766:g.149472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1267G>A | ||
| ENST00000688602.1:c.2664G>A | ||
| ENST00000689936.1:c.2636G>A | ||
| ENST00000359596.8:c.14331G>A MANE Select | ENSP00000352608.2:p.Gln4777= | |
| ENST00000355481.8:c.14316G>A | ENSP00000347667.3:p.Gln4772= | |
| ENST00000359596.7:c.14331G>A | ENSP00000352608.2:p.Gln4777= | |
| ENST00000360985.7:c.14313G>A | ENSP00000354254.4:p.Gln4771= | |
| NM_000540.2:c.14331G>A , LRG_766t1:c.14331G>A | NP_000531.2:p.Gln4777= | |
| NM_001042723.1:c.14316G>A | NP_001036188.1:p.Gln4772= | |
| XM_006723317.1:c.14313G>A | XP_006723380.1:p.Gln4771= | |
| XM_006723319.1:c.14298G>A | XP_006723382.1:p.Gln4766= | |
| XM_011527204.1:c.14328G>A | XP_011525506.1:p.Gln4776= | |
| XM_011527205.1:c.14244G>A | XP_011525507.1:p.Gln4748= | |
| XM_006723317.2:c.14313G>A | XP_006723380.1:p.Gln4771= | |
| XM_006723319.2:c.14298G>A | XP_006723382.1:p.Gln4766= | |
| XM_011527205.2:c.14244G>A | XP_011525507.1:p.Gln4748= | |
| NM_000540.3:c.14331G>A MANE Select | NP_000531.2:p.Gln4777= | |
| NM_001042723.2:c.14316G>A | NP_001036188.1:p.Gln4772= |