Linked Data
ClinVar Variation Id:
379927
ClinVar RCV Id:
RCV001378534
dbSNP Id:
rs1057520790
gnomAD v2:
16-53686900-C-T
gnomAD v3:
16-53652988-C-T
gnomAD v4:
16-53652988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53652988C>T , CM000678.2:g.53652988C>T | GRCh38 |
| NC_000016.9:g.53686900C>T , CM000678.1:g.53686900C>T | GRCh37 |
| NC_000016.8:g.52244401C>T | NCBI36 |
| NG_008991.2:g.55872G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262135.9:c.1700-1G>A | ENSP00000262135.4:n.1700-1G>A | |
| ENST00000565343.2:n.2124-1G>A | ||
| ENST00000621565.5:c.1700-1G>A | ENSP00000480698.1:n.1700-1G>A | |
| ENST00000647211.2:c.1700-1G>A MANE Select | ENSP00000493946.1:n.1700-1G>A | |
| ENST00000680193.1:c.1700-1G>A | ENSP00000506379.1:n.1700-1G>A | |
| ENST00000262135.8:c.1700-1G>A | ENSP00000262135.4:n.1700-1G>A | |
| ENST00000379925.7:c.1700-1G>A | ENSP00000369257.3:n.1700-1G>A | |
| ENST00000563746.5:c.1700-1G>A | ENSP00000457889.1:n.1700-1G>A | |
| ENST00000564374.5:c.1700-1G>A | ENSP00000456534.1:n.1700-1G>A | |
| ENST00000621565.4:c.1700-1G>A | ENSP00000480698.1:n.1700-1G>A | |
| NM_001127897.1:c.1700-1G>A | NP_001121369.1:n.1700-1G>A | |
| NM_001127897.2:c.1700-1G>A | NP_001121369.1:n.1700-1G>A | |
| NM_001308334.1:c.1700-1G>A | NP_001295263.1:n.1700-1G>A | |
| NM_015272.2:c.1700-1G>A | NP_056087.2:n.1700-1G>A | |
| NM_015272.3:c.1700-1G>A | NP_056087.2:n.1700-1G>A | |
| XM_005255867.1:c.1700-1G>A | XP_005255924.1:n.1700-1G>A | |
| XM_005255868.1:c.1712-1G>A | XP_005255925.1:n.1712-1G>A | |
| XM_005255871.2:c.-56-1G>A | XP_005255928.1:n.-56-1G>A | |
| XM_011522968.1:c.1700-1G>A | XP_011521270.1:n.1700-1G>A | |
| XM_011522969.1:c.1712-1G>A | XP_011521271.1:n.1712-1G>A | |
| XM_011522970.1:c.1712-1G>A | XP_011521272.1:n.1712-1G>A | |
| XM_011522971.1:c.1712-1G>A | XP_011521273.1:n.1712-1G>A | |
| XM_011522972.1:c.1712-1G>A | XP_011521274.1:n.1712-1G>A | |
| XM_011522973.1:c.1712-1G>A | XP_011521275.1:n.1712-1G>A | |
| XM_011522974.1:c.-56-1G>A | XP_011521276.1:n.-56-1G>A | |
| XR_933260.1:n.1744-1G>A | ||
| NM_001127897.3:c.1700-1G>A | NP_001121369.1:n.1700-1G>A | |
| NM_001308334.2:c.1700-1G>A | NP_001295263.1:n.1700-1G>A | |
| NM_001330538.1:c.1700-1G>A | NP_001317467.1:n.1700-1G>A | |
| NM_015272.4:c.1700-1G>A | NP_056087.2:n.1700-1G>A | |
| XM_005255868.2:c.1712-1G>A | XP_005255925.1:n.1712-1G>A | |
| XM_011522970.2:c.1712-1G>A | XP_011521272.1:n.1712-1G>A | |
| XM_011522971.3:c.1712-1G>A | XP_011521273.1:n.1712-1G>A | |
| XM_011522973.3:c.1712-1G>A | XP_011521275.1:n.1712-1G>A | |
| XM_017023094.2:c.1712-1G>A | XP_016878583.1:n.1712-1G>A | |
| XM_017023095.2:c.1712-1G>A | XP_016878584.1:n.1712-1G>A | |
| XM_017023096.2:c.1712-1G>A | XP_016878585.1:n.1712-1G>A | |
| XM_017023097.2:c.1712-1G>A | XP_016878586.1:n.1712-1G>A | |
| XM_017023098.1:c.-56-1G>A | XP_016878587.1:n.-56-1G>A | |
| XM_017023099.1:c.-56-1G>A | XP_016878588.1:n.-56-1G>A | |
| XM_017023100.2:c.*47-1G>A | XP_016878589.1:n.*47-1G>A | |
| XR_933260.3:n.1755-1G>A | ||
| NM_015272.5:c.1700-1G>A MANE Select | NP_056087.2:n.1700-1G>A | |
| NM_001127897.4:c.1700-1G>A | NP_001121369.1:n.1700-1G>A | |
| NM_001330538.2:c.1700-1G>A | NP_001317467.1:n.1700-1G>A | |
| NM_001308334.3:c.1700-1G>A | NP_001295263.1:n.1700-1G>A |