Linked Data
dbSNP Id:
rs756290348
ExAC:
2:25965347 C / T
gnomAD v2:
2-25965347-C-T
gnomAD v3:
2-25742478-C-T
gnomAD v4:
2-25742478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742478C>T , CM000664.2:g.25742478C>T | GRCh38 |
| NC_000002.11:g.25965347C>T , CM000664.1:g.25965347C>T | GRCh37 |
| NC_000002.10:g.25818851C>T | NCBI36 |
| NG_052995.1:g.141039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3856G>A | ENSP00000337250.5:p.Glu1286Lys | |
| ENST00000435504.9:c.3859G>A MANE Select | ENSP00000391447.3:p.Glu1287Lys | |
| ENST00000336112.8:c.3775G>A | ENSP00000337250.4:p.Glu1259Lys | |
| ENST00000404843.5:c.2308G>A | ENSP00000383920.1:p.Glu770Lys | |
| ENST00000435504.8:c.3859G>A | ENSP00000391447.3:p.Glu1287Lys | |
| NM_018263.4:c.3859G>A | NP_060733.4:p.Glu1287Lys | |
| XM_006712039.2:c.3493G>A | XP_006712102.1:p.Glu1165Lys | |
| XM_006712040.1:c.3079G>A | XP_006712103.1:p.Glu1027Lys | |
| XM_011532950.1:c.3856G>A | XP_011531252.1:p.Glu1286Lys | |
| XM_011532951.1:c.3685G>A | XP_011531253.1:p.Glu1229Lys | |
| NM_018263.5:c.3859G>A | NP_060733.4:p.Glu1287Lys | |
| XM_006712039.3:c.3493G>A | XP_006712102.1:p.Glu1165Lys | |
| XM_006712040.2:c.3079G>A | XP_006712103.1:p.Glu1027Lys | |
| XM_011532950.3:c.3856G>A | XP_011531252.1:p.Glu1286Lys | |
| XM_011532951.2:c.3685G>A | XP_011531253.1:p.Glu1229Lys | |
| XM_017004430.1:c.3079G>A | XP_016859919.1:p.Glu1027Lys | |
| XM_024452974.1:c.4039G>A | XP_024308742.1:p.Glu1347Lys | |
| NM_001369346.1:c.3685G>A | NP_001356275.1:p.Glu1229Lys | |
| NM_001369347.1:c.3079G>A | NP_001356276.1:p.Glu1027Lys | |
| NM_018263.6:c.3859G>A MANE Select | NP_060733.4:p.Glu1287Lys |