Linked Data
dbSNP Id:
rs742105
gnomAD v2:
6-15573074-C-T
gnomAD v3:
6-15572843-C-T
gnomAD v4:
6-15572843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15572843C>T , CM000668.2:g.15572843C>T | GRCh38 |
| NC_000006.11:g.15573074C>T , CM000668.1:g.15573074C>T | GRCh37 |
| NC_000006.10:g.15681053C>T | NCBI36 |
| NG_009309.1:g.95198G>A , LRG_588:g.95198G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344537.10:c.511+20216G>A MANE Select | ENSP00000341680.6:n.511+20216G>A | |
| ENST00000338950.9:c.511+20216G>A | ENSP00000344718.5:n.511+20216G>A | |
| ENST00000344537.9:c.511+20216G>A | ENSP00000341680.5:n.511+20216G>A | |
| ENST00000355917.7:c.460+20216G>A | ENSP00000348183.4:n.460+20216G>A | |
| ENST00000462989.6:c.43+12876G>A | ENSP00000427239.1:n.43+12876G>A | |
| ENST00000506844.1:c.*509+20216G>A | ENSP00000424202.1:n.*509+20216G>A | |
| ENST00000510395.5:c.*421+20216G>A | ENSP00000424685.1:n.*421+20216G>A | |
| ENST00000511762.2:c.406+20216G>A | ENSP00000427473.2:n.406+20216G>A | |
| ENST00000513680.5:c.*509+20216G>A | ENSP00000424357.1:n.*509+20216G>A | |
| ENST00000515875.5:c.460+20216G>A | ENSP00000425495.1:n.460+20216G>A | |
| ENST00000622898.4:c.406+20216G>A | ENSP00000481997.1:n.406+20216G>A | |
| NM_001271667.1:c.268+20216G>A | NP_001258596.1:n.268+20216G>A | |
| NM_001271668.1:c.460+20216G>A | NP_001258597.1:n.460+20216G>A | |
| NM_001271669.1:c.406+20216G>A | NP_001258598.1:n.406+20216G>A | |
| NM_032122.4:c.511+20216G>A , LRG_588t1:c.511+20216G>A | NP_115498.2:n.511+20216G>A | |
| NM_183040.2:c.511+20216G>A , LRG_588t2:c.511+20216G>A | NP_898861.1:n.511+20216G>A | |
| NR_036448.1:n.839+20216G>A | ||
| XM_005249447.3:c.472+20216G>A | XP_005249504.1:n.472+20216G>A | |
| XM_011514936.1:c.421+20216G>A | XP_011513238.1:n.421+20216G>A | |
| XM_011514937.1:c.43+12876G>A | XP_011513239.1:n.43+12876G>A | |
| XM_005249447.4:c.472+20216G>A | XP_005249504.1:n.472+20216G>A | |
| XM_011514936.3:c.421+20216G>A | XP_011513238.1:n.421+20216G>A | |
| XM_011514937.2:c.43+12876G>A | XP_011513239.1:n.43+12876G>A | |
| NM_032122.5:c.511+20216G>A MANE Select | NP_115498.2:n.511+20216G>A | |
| NR_036448.2:n.809+20216G>A | ||
| NM_001271667.2:c.268+20216G>A | NP_001258596.1:n.268+20216G>A | |
| NM_001271668.2:c.460+20216G>A | NP_001258597.1:n.460+20216G>A | |
| NM_001271669.2:c.406+20216G>A | NP_001258598.1:n.406+20216G>A | |
| NR_036448.3:n.809+20216G>A |