Linked Data
dbSNP Id:
rs746010291
ExAC:
2:25964989 G / A
gnomAD v2:
2-25964989-G-A
gnomAD v4:
2-25742120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742120G>A , CM000664.2:g.25742120G>A | GRCh38 |
| NC_000002.11:g.25964989G>A , CM000664.1:g.25964989G>A | GRCh37 |
| NC_000002.10:g.25818493G>A | NCBI36 |
| NG_052995.1:g.141397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4214C>T | ENSP00000337250.5:p.Ala1405Val | |
| ENST00000435504.9:c.4217C>T MANE Select | ENSP00000391447.3:p.Ala1406Val | |
| ENST00000336112.8:c.4133C>T | ENSP00000337250.4:p.Ala1378Val | |
| ENST00000404843.5:c.2666C>T | ENSP00000383920.1:p.Ala889Val | |
| ENST00000435504.8:c.4217C>T | ENSP00000391447.3:p.Ala1406Val | |
| NM_018263.4:c.4217C>T | NP_060733.4:p.Ala1406Val | |
| XM_006712039.2:c.3851C>T | XP_006712102.1:p.Ala1284Val | |
| XM_006712040.1:c.3437C>T | XP_006712103.1:p.Ala1146Val | |
| XM_011532950.1:c.4214C>T | XP_011531252.1:p.Ala1405Val | |
| XM_011532951.1:c.4043C>T | XP_011531253.1:p.Ala1348Val | |
| NM_018263.5:c.4217C>T | NP_060733.4:p.Ala1406Val | |
| XM_006712039.3:c.3851C>T | XP_006712102.1:p.Ala1284Val | |
| XM_006712040.2:c.3437C>T | XP_006712103.1:p.Ala1146Val | |
| XM_011532950.3:c.4214C>T | XP_011531252.1:p.Ala1405Val | |
| XM_011532951.2:c.4043C>T | XP_011531253.1:p.Ala1348Val | |
| XM_017004430.1:c.3437C>T | XP_016859919.1:p.Ala1146Val | |
| XM_024452974.1:c.4397C>T | XP_024308742.1:p.Ala1466Val | |
| NM_001369346.1:c.4043C>T | NP_001356275.1:p.Ala1348Val | |
| NM_001369347.1:c.3437C>T | NP_001356276.1:p.Ala1146Val | |
| NM_018263.6:c.4217C>T MANE Select | NP_060733.4:p.Ala1406Val |