Linked Data
dbSNP Id:
rs751309437
ExAC:
2:25965036 C / T
gnomAD v2:
2-25965036-C-T
gnomAD v3:
2-25742167-C-T
gnomAD v4:
2-25742167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742167C>T , CM000664.2:g.25742167C>T | GRCh38 |
| NC_000002.11:g.25965036C>T , CM000664.1:g.25965036C>T | GRCh37 |
| NC_000002.10:g.25818540C>T | NCBI36 |
| NG_052995.1:g.141350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4167G>A | ENSP00000337250.5:p.Glu1389= | |
| ENST00000435504.9:c.4170G>A MANE Select | ENSP00000391447.3:p.Glu1390= | |
| ENST00000336112.8:c.4086G>A | ENSP00000337250.4:p.Glu1362= | |
| ENST00000404843.5:c.2619G>A | ENSP00000383920.1:p.Glu873= | |
| ENST00000435504.8:c.4170G>A | ENSP00000391447.3:p.Glu1390= | |
| NM_018263.4:c.4170G>A | NP_060733.4:p.Glu1390= | |
| XM_006712039.2:c.3804G>A | XP_006712102.1:p.Glu1268= | |
| XM_006712040.1:c.3390G>A | XP_006712103.1:p.Glu1130= | |
| XM_011532950.1:c.4167G>A | XP_011531252.1:p.Glu1389= | |
| XM_011532951.1:c.3996G>A | XP_011531253.1:p.Glu1332= | |
| NM_018263.5:c.4170G>A | NP_060733.4:p.Glu1390= | |
| XM_006712039.3:c.3804G>A | XP_006712102.1:p.Glu1268= | |
| XM_006712040.2:c.3390G>A | XP_006712103.1:p.Glu1130= | |
| XM_011532950.3:c.4167G>A | XP_011531252.1:p.Glu1389= | |
| XM_011532951.2:c.3996G>A | XP_011531253.1:p.Glu1332= | |
| XM_017004430.1:c.3390G>A | XP_016859919.1:p.Glu1130= | |
| XM_024452974.1:c.4350G>A | XP_024308742.1:p.Glu1450= | |
| NM_001369346.1:c.3996G>A | NP_001356275.1:p.Glu1332= | |
| NM_001369347.1:c.3390G>A | NP_001356276.1:p.Glu1130= | |
| NM_018263.6:c.4170G>A MANE Select | NP_060733.4:p.Glu1390= |