Linked Data
dbSNP Id:
rs771353705
ExAC:
12:102158620 T / A
gnomAD v2:
12-102158620-T-A
gnomAD v4:
12-101764842-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764842T>A , CM000674.2:g.101764842T>A | GRCh38 |
| NC_000012.11:g.102158620T>A , CM000674.1:g.102158620T>A | GRCh37 |
| NC_000012.10:g.100682751T>A | NCBI36 |
| NG_021243.1:g.71026A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2075A>T MANE Select | ENSP00000299314.7:p.Glu692Val | |
| ENST00000299314.11:c.2075A>T | ENSP00000299314.7:p.Glu692Val | |
| NM_024312.4:c.2075A>T | NP_077288.2:p.Glu692Val | |
| XM_006719593.2:c.2075A>T | XP_006719656.1:p.Glu692Val | |
| XM_011538731.1:c.1994A>T | XP_011537033.1:p.Glu665Val | |
| XM_006719593.3:c.2075A>T | XP_006719656.1:p.Glu692Val | |
| XM_011538731.2:c.1994A>T | XP_011537033.1:p.Glu665Val | |
| XM_017019961.1:c.1859A>T | XP_016875450.1:p.Glu620Val | |
| XM_017019962.2:c.848A>T | XP_016875451.1:p.Glu283Val | |
| NM_024312.5:c.2075A>T MANE Select | NP_077288.2:p.Glu692Val |