Linked Data
ClinVar Variation Id:
353992
dbSNP Id:
rs1553114
ExAC:
5:58286625 C / T
gnomAD v2:
5-58286625-C-T
gnomAD v3:
5-58990798-C-T
gnomAD v4:
5-58990798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.58990798C>T , CM000667.2:g.58990798C>T | GRCh38 |
| NC_000005.9:g.58286625C>T , CM000667.1:g.58286625C>T | GRCh37 |
| NC_000005.8:g.58322382C>T | NCBI36 |
| NG_027957.1:g.1502301G>A | |
| NG_027957.2:g.1538532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.1095+6G>A | ENSP00000424852.1:n.1095+6G>A | |
| ENST00000340635.11:c.1287+6G>A MANE Select | ENSP00000345502.6:n.1287+6G>A | |
| ENST00000636120.1:c.957+6G>A | ENSP00000490821.1:n.957+6G>A | |
| ENST00000309641.10:c.1139+6G>A | ENSP00000308485.6:n.1139+6G>A | |
| ENST00000317118.12:c.414+6G>A | ENSP00000321739.8:n.414+6G>A | |
| ENST00000340635.10:c.1287+6G>A | ENSP00000345502.6:n.1287+6G>A | |
| ENST00000358923.10:c.381+6G>A | ENSP00000351800.6:n.381+6G>A | |
| ENST00000360047.9:c.879+6G>A | ENSP00000353152.5:n.879+6G>A | |
| ENST00000405755.6:c.921+6G>A | ENSP00000384806.2:n.921+6G>A | |
| ENST00000502484.6:c.1104+6G>A | ENSP00000423094.2:n.1104+6G>A | |
| ENST00000503258.5:c.897+6G>A | ENSP00000425605.1:n.897+6G>A | |
| ENST00000505453.1:c.381+6G>A | ENSP00000421013.1:n.381+6G>A | |
| ENST00000507116.5:c.1095+6G>A | ENSP00000424852.1:n.1095+6G>A | |
| ENST00000515011.5:n.1023+6G>A | ||
| ENST00000546160.5:c.894+6G>A | ENSP00000442734.2:n.894+6G>A | |
| NM_001104631.1:c.1287+6G>A | NP_001098101.1:n.1287+6G>A | |
| NM_001165899.1:c.1104+6G>A | NP_001159371.1:n.1104+6G>A | |
| NM_001197218.1:c.1095+6G>A | NP_001184147.1:n.1095+6G>A | |
| NM_001197219.1:c.921+6G>A | NP_001184148.1:n.921+6G>A | |
| NM_001197220.1:c.897+6G>A | NP_001184149.1:n.897+6G>A | |
| NM_001197221.1:c.381+6G>A | NP_001184150.1:n.381+6G>A | |
| NM_001197222.1:c.615+6G>A | NP_001184151.1:n.615+6G>A | |
| NM_001197223.1:c.414+6G>A | NP_001184152.1:n.414+6G>A | |
| NM_006203.4:c.879+6G>A | NP_006194.2:n.879+6G>A | |
| XM_005248537.2:c.957+6G>A | XP_005248594.1:n.957+6G>A | |
| XM_005248538.3:c.879+6G>A | XP_005248595.1:n.879+6G>A | |
| XM_011543469.1:c.1251+6G>A | XP_011541771.1:n.1251+6G>A | |
| XM_011543470.1:c.1251+6G>A | XP_011541772.1:n.1251+6G>A | |
| XM_011543471.1:c.1104+6G>A | XP_011541773.1:n.1104+6G>A | |
| XM_011543472.1:c.1104+6G>A | XP_011541774.1:n.1104+6G>A | |
| XM_011543473.1:c.1104+6G>A | XP_011541775.1:n.1104+6G>A | |
| XM_011543474.1:c.1074+6G>A | XP_011541776.1:n.1074+6G>A | |
| XM_011543475.1:c.921+6G>A | XP_011541777.1:n.921+6G>A | |
| XM_011543476.1:c.867+6G>A | XP_011541778.1:n.867+6G>A | |
| XM_011543477.1:c.846+6G>A | XP_011541779.1:n.846+6G>A | |
| XM_011543478.1:c.783+6G>A | XP_011541780.1:n.783+6G>A | |
| XM_011543479.1:c.783+6G>A | XP_011541781.1:n.783+6G>A | |
| NM_001349241.1:c.1074+6G>A | NP_001336170.1:n.1074+6G>A | |
| NM_001349242.1:c.957+6G>A | NP_001336171.1:n.957+6G>A | |
| NM_001349243.1:c.519+6G>A | NP_001336172.1:n.519+6G>A | |
| NM_001364599.1:c.1104+6G>A | NP_001351528.1:n.1104+6G>A | |
| NM_001364603.1:c.381+6G>A | NP_001351532.1:n.381+6G>A | |
| NM_001364604.1:c.519+6G>A | NP_001351533.1:n.519+6G>A | |
| XM_011543470.2:c.1251+6G>A | XP_011541772.1:n.1251+6G>A | |
| XM_011543471.2:c.1104+6G>A | XP_011541773.1:n.1104+6G>A | |
| XM_017009565.1:c.1251+6G>A | XP_016865054.1:n.1251+6G>A | |
| XM_017009566.1:c.1104+6G>A | XP_016865055.1:n.1104+6G>A | |
| XM_017009567.1:c.1089+6G>A | XP_016865056.1:n.1089+6G>A | |
| XM_024446110.1:c.1251+6G>A | XP_024301878.1:n.1251+6G>A | |
| XM_024446112.1:c.1104+6G>A | XP_024301880.1:n.1104+6G>A | |
| NM_001104631.2:c.1287+6G>A MANE Select | NP_001098101.1:n.1287+6G>A | |
| NM_001165899.2:c.1104+6G>A | NP_001159371.1:n.1104+6G>A | |
| NM_001197218.2:c.1095+6G>A | NP_001184147.1:n.1095+6G>A | |
| NM_001197219.2:c.921+6G>A | NP_001184148.1:n.921+6G>A | |
| NM_001197220.2:c.897+6G>A | NP_001184149.1:n.897+6G>A | |
| NM_001197221.2:c.381+6G>A | NP_001184150.1:n.381+6G>A | |
| NM_001197222.2:c.615+6G>A | NP_001184151.1:n.615+6G>A | |
| NM_001197223.2:c.414+6G>A | NP_001184152.1:n.414+6G>A | |
| NM_001349241.2:c.1074+6G>A | NP_001336170.1:n.1074+6G>A | |
| NM_001349243.2:c.519+6G>A | NP_001336172.1:n.519+6G>A | |
| NM_001349242.2:c.957+6G>A | NP_001336171.1:n.957+6G>A | |
| NM_006203.5:c.879+6G>A | NP_006194.2:n.879+6G>A |