Linked Data
dbSNP Id:
rs755581184
ExAC:
3:33038698 G / T
gnomAD v2:
3-33038698-G-T
gnomAD v4:
3-32997206-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997206G>T , CM000665.2:g.32997206G>T | GRCh38 |
| NC_000003.11:g.33038698G>T , CM000665.1:g.33038698G>T | GRCh37 |
| NC_000003.10:g.33013702G>T | NCBI36 |
| NG_009005.1:g.104997C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1873C>A MANE Select | ENSP00000306920.4:p.Pro625Thr | |
| ENST00000307363.9:c.1873C>A | ENSP00000306920.4:p.Pro625Thr | |
| ENST00000307377.12:c.1480C>A | ENSP00000305920.8:p.Pro494Thr | |
| ENST00000399402.7:c.1783C>A | ENSP00000382333.2:p.Pro595Thr | |
| NM_000404.2:c.1873C>A | NP_000395.2:p.Pro625Thr | |
| NM_000404.3:c.1873C>A | NP_000395.2:p.Pro625Thr | |
| NM_001079811.1:c.1783C>A | NP_001073279.1:p.Pro595Thr | |
| NM_001079811.2:c.1783C>A | NP_001073279.1:p.Pro595Thr | |
| NM_001135602.1:c.1480C>A | NP_001129074.1:p.Pro494Thr | |
| NM_001135602.2:c.1480C>A | NP_001129074.1:p.Pro494Thr | |
| NM_001317040.1:c.2017C>A | NP_001303969.1:p.Pro673Thr | |
| NM_000404.4:c.1873C>A MANE Select | NP_000395.3:p.Pro625Thr | |
| NM_001079811.3:c.1783C>A | NP_001073279.2:p.Pro595Thr | |
| NM_001135602.3:c.1480C>A | NP_001129074.2:p.Pro494Thr | |
| NM_001317040.2:c.2017C>A | NP_001303969.2:p.Pro673Thr | |
| NM_001393580.1:c.1734+16850C>A | NP_001380509.1:n.1734+16850C>A |