Linked Data
dbSNP Id:
rs755790672
ExAC:
12:114841621 G / A
gnomAD v3:
12-114403816-G-A
gnomAD v4:
12-114403816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114403816G>A , CM000674.2:g.114403816G>A | GRCh38 |
| NC_000012.11:g.114841621G>A , CM000674.1:g.114841621G>A | GRCh37 |
| NC_000012.10:g.113326004G>A | NCBI36 |
| NG_007373.1:g.9627C>T , LRG_670:g.9627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.83C>T MANE Select | ENSP00000384152.3:p.Pro28Leu | |
| ENST00000310346.8:c.83C>T | ENSP00000309913.4:p.Pro28Leu | |
| ENST00000349716.9:c.-3-1896C>T | ENSP00000337723.5:n.-3-1896C>T | |
| ENST00000405440.6:c.83C>T | ENSP00000384152.2:p.Pro28Leu | |
| ENST00000526441.1:c.83C>T | ENSP00000433292.1:p.Pro28Leu | |
| ENST00000552726.1:n.134C>T | ||
| NM_000192.3:c.83C>T , LRG_670t1:c.83C>T | NP_000183.2:p.Pro28Leu | |
| NM_080717.2:c.-3-1896C>T | NP_542448.1:n.-3-1896C>T | |
| NM_181486.2:c.83C>T | NP_852259.1:p.Pro28Leu | |
| XM_017019912.1:c.131C>T | XP_016875401.1:p.Pro44Leu | |
| NM_080717.3:c.-3-1896C>T | NP_542448.1:n.-3-1896C>T | |
| NM_181486.4:c.83C>T MANE Select | NP_852259.1:p.Pro28Leu | |
| NM_080717.4:c.-3-1896C>T | NP_542448.1:n.-3-1896C>T |