Linked Data
dbSNP Id:
rs1308092943
gnomAD v2:
6-15628017-T-A
gnomAD v3:
6-15627786-T-A
gnomAD v4:
6-15627786-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627786T>A , CM000668.2:g.15627786T>A | GRCh38 |
| NC_000006.11:g.15628017T>A , CM000668.1:g.15628017T>A | GRCh37 |
| NC_000006.10:g.15735996T>A | NCBI36 |
| NG_009309.1:g.40255A>T , LRG_588:g.40255A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344537.10:c.223-311A>T MANE Select | ENSP00000341680.6:n.223-311A>T | |
| ENST00000338950.9:c.223-311A>T | ENSP00000344718.5:n.223-311A>T | |
| ENST00000344537.9:c.223-311A>T | ENSP00000341680.5:n.223-311A>T | |
| ENST00000355917.7:c.172-311A>T | ENSP00000348183.4:n.172-311A>T | |
| ENST00000506844.1:c.*221-311A>T | ENSP00000424202.1:n.*221-311A>T | |
| ENST00000510395.5:c.*133-311A>T | ENSP00000424685.1:n.*133-311A>T | |
| ENST00000511762.2:c.118-311A>T | ENSP00000427473.2:n.118-311A>T | |
| ENST00000513680.5:c.*221-311A>T | ENSP00000424357.1:n.*221-311A>T | |
| ENST00000515875.5:c.172-311A>T | ENSP00000425495.1:n.172-311A>T | |
| ENST00000622898.4:c.118-311A>T | ENSP00000481997.1:n.118-311A>T | |
| NM_001271667.1:c.-21-311A>T | NP_001258596.1:n.-21-311A>T | |
| NM_001271668.1:c.172-311A>T | NP_001258597.1:n.172-311A>T | |
| NM_001271669.1:c.118-311A>T | NP_001258598.1:n.118-311A>T | |
| NM_032122.4:c.223-311A>T , LRG_588t1:c.223-311A>T | NP_115498.2:n.223-311A>T | |
| NM_183040.2:c.223-311A>T , LRG_588t2:c.223-311A>T | NP_898861.1:n.223-311A>T | |
| NR_036448.1:n.551-311A>T | ||
| XM_005249447.3:c.184-311A>T | XP_005249504.1:n.184-311A>T | |
| XM_011514936.1:c.133-311A>T | XP_011513238.1:n.133-311A>T | |
| XM_005249447.4:c.184-311A>T | XP_005249504.1:n.184-311A>T | |
| XM_011514936.3:c.133-311A>T | XP_011513238.1:n.133-311A>T | |
| NM_032122.5:c.223-311A>T MANE Select | NP_115498.2:n.223-311A>T | |
| NR_036448.2:n.521-311A>T | ||
| NM_001271667.2:c.-21-311A>T | NP_001258596.1:n.-21-311A>T | |
| NM_001271668.2:c.172-311A>T | NP_001258597.1:n.172-311A>T | |
| NM_001271669.2:c.118-311A>T | NP_001258598.1:n.118-311A>T | |
| NR_036448.3:n.521-311A>T |