Linked Data
dbSNP Id:
rs777578144
ExAC:
12:96384199 G / A
gnomAD v2:
12-96384199-G-A
gnomAD v3:
12-95990421-G-A
gnomAD v4:
12-95990421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990421G>A , CM000674.2:g.95990421G>A | GRCh38 |
| NC_000012.11:g.96384199G>A , CM000674.1:g.96384199G>A | GRCh37 |
| NC_000012.10:g.94908330G>A | NCBI36 |
| NG_008180.1:g.10873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.827C>T MANE Select | ENSP00000261208.3:p.Pro276Leu | |
| ENST00000261208.7:c.827C>T | ENSP00000261208.3:p.Pro276Leu | |
| ENST00000538703.5:c.827C>T | ENSP00000440861.1:p.Pro276Leu | |
| ENST00000541929.5:c.203C>T | ENSP00000446364.1:p.Pro68Leu | |
| ENST00000544080.6:c.*256C>T | ENSP00000439385.2:n.*256C>T | |
| ENST00000546999.5:c.*256C>T | ENSP00000447675.1:n.*256C>T | |
| ENST00000549376.1:n.220C>T | ||
| ENST00000551562.1:n.87C>T | ||
| ENST00000552509.5:c.791C>T | ENSP00000450372.1:p.Pro264Leu | |
| NM_001258333.1:c.203C>T | NP_001245262.1:p.Pro68Leu | |
| NM_001258334.1:c.827C>T | NP_001245263.1:p.Pro276Leu | |
| NM_002108.3:c.827C>T | NP_002099.1:p.Pro276Leu | |
| XM_011538249.1:c.4-2181C>T | XP_011536551.1:n.4-2181C>T | |
| XM_011538249.2:c.4-2181C>T | XP_011536551.1:n.4-2181C>T | |
| NM_002108.4:c.827C>T MANE Select | NP_002099.1:p.Pro276Leu | |
| NM_001258334.2:c.827C>T | NP_001245263.1:p.Pro276Leu | |
| NM_001258333.2:c.203C>T | NP_001245262.1:p.Pro68Leu |