Linked Data
dbSNP Id:
rs6459409
gnomAD v2:
6-15636853-T-C
gnomAD v3:
6-15636622-T-C
gnomAD v4:
6-15636622-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15636622T>C , CM000668.2:g.15636622T>C | GRCh38 |
| NC_000006.11:g.15636853T>C , CM000668.1:g.15636853T>C | GRCh37 |
| NC_000006.10:g.15744832T>C | NCBI36 |
| NG_009309.1:g.31419A>G , LRG_588:g.31419A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344537.10:c.222+1122A>G MANE Select | ENSP00000341680.6:n.222+1122A>G | |
| ENST00000338950.9:c.222+1122A>G | ENSP00000344718.5:n.222+1122A>G | |
| ENST00000344537.9:c.222+1122A>G | ENSP00000341680.5:n.222+1122A>G | |
| ENST00000355917.7:c.171+1122A>G | ENSP00000348183.4:n.171+1122A>G | |
| ENST00000506844.1:c.*220+1122A>G | ENSP00000424202.1:n.*220+1122A>G | |
| ENST00000510395.5:c.*132+1122A>G | ENSP00000424685.1:n.*132+1122A>G | |
| ENST00000511762.2:c.117+1122A>G | ENSP00000427473.2:n.117+1122A>G | |
| ENST00000513680.5:c.*220+1122A>G | ENSP00000424357.1:n.*220+1122A>G | |
| ENST00000515875.5:c.171+1122A>G | ENSP00000425495.1:n.171+1122A>G | |
| ENST00000622898.4:c.117+1122A>G | ENSP00000481997.1:n.117+1122A>G | |
| NM_001271667.1:c.-22+1122A>G | NP_001258596.1:n.-22+1122A>G | |
| NM_001271668.1:c.171+1122A>G | NP_001258597.1:n.171+1122A>G | |
| NM_001271669.1:c.117+1122A>G | NP_001258598.1:n.117+1122A>G | |
| NM_032122.4:c.222+1122A>G , LRG_588t1:c.222+1122A>G | NP_115498.2:n.222+1122A>G | |
| NM_183040.2:c.222+1122A>G , LRG_588t2:c.222+1122A>G | NP_898861.1:n.222+1122A>G | |
| NR_036448.1:n.550+1122A>G | ||
| XM_005249447.3:c.183+1122A>G | XP_005249504.1:n.183+1122A>G | |
| XM_011514936.1:c.132+1122A>G | XP_011513238.1:n.132+1122A>G | |
| XM_005249447.4:c.183+1122A>G | XP_005249504.1:n.183+1122A>G | |
| XM_011514936.3:c.132+1122A>G | XP_011513238.1:n.132+1122A>G | |
| NM_032122.5:c.222+1122A>G MANE Select | NP_115498.2:n.222+1122A>G | |
| NR_036448.2:n.520+1122A>G | ||
| NM_001271667.2:c.-22+1122A>G | NP_001258596.1:n.-22+1122A>G | |
| NM_001271668.2:c.171+1122A>G | NP_001258597.1:n.171+1122A>G | |
| NM_001271669.2:c.117+1122A>G | NP_001258598.1:n.117+1122A>G | |
| NR_036448.3:n.520+1122A>G |