Linked Data
dbSNP Id:
rs770546452
ExAC:
3:148727235 G / T
gnomAD v2:
3-148727235-G-T
gnomAD v4:
3-149009448-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149009448G>T , CM000665.2:g.149009448G>T | GRCh38 |
| NC_000003.11:g.148727235G>T , CM000665.1:g.148727235G>T | GRCh37 |
| NC_000003.10:g.150209925G>T | NCBI36 |
| NG_027677.1:g.23041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345003.9:c.608+46G>T MANE Select | ENSP00000340736.4:n.608+46G>T | |
| ENST00000296048.10:c.608+46G>T | ENSP00000296048.6:n.608+46G>T | |
| ENST00000345003.8:c.608+46G>T | ENSP00000340736.4:n.608+46G>T | |
| ENST00000461191.1:c.596+46G>T | ENSP00000420247.1:n.596+46G>T | |
| ENST00000469873.1:n.522+46G>T | ||
| ENST00000479119.1:n.224+46G>T | ||
| ENST00000483267.5:c.469+12556G>T | ENSP00000419499.1:n.469+12556G>T | |
| ENST00000484197.5:c.608+46G>T | ENSP00000420683.1:n.608+46G>T | |
| ENST00000627418.2:c.469+12556G>T | ENSP00000486061.1:n.469+12556G>T | |
| NM_001184720.1:c.608+46G>T | NP_001171649.1:n.608+46G>T | |
| NM_001184721.1:c.608+46G>T | NP_001171650.1:n.608+46G>T | |
| NM_004130.3:c.608+46G>T | NP_004121.2:n.608+46G>T | |
| XM_017006275.1:c.431+46G>T | XP_016861764.1:n.431+46G>T | |
| XM_017006276.1:c.146+46G>T | XP_016861765.1:n.146+46G>T | |
| NM_004130.4:c.608+46G>T MANE Select | NP_004121.2:n.608+46G>T | |
| NM_001184720.2:c.608+46G>T | NP_001171649.1:n.608+46G>T | |
| NM_001184721.2:c.608+46G>T | NP_001171650.1:n.608+46G>T |