Linked Data
ClinVar Variation Id:
1654085
ClinVar RCV Id:
RCV002163695
dbSNP Id:
rs746447611
ExAC:
4:36310127 G / T
gnomAD v2:
4-36310127-G-T
gnomAD v3:
4-36308505-G-T
gnomAD v4:
4-36308505-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.36308505G>T , CM000666.2:g.36308505G>T | GRCh38 |
| NC_000004.11:g.36310127G>T , CM000666.1:g.36310127G>T | GRCh37 |
| NC_000004.10:g.35986522G>T | NCBI36 |
| NG_032962.1:g.31891G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639862.2:c.2095+12G>T MANE Select | ENSP00000492542.1:n.2095+12G>T | |
| ENST00000357504.7:c.1225+12G>T | ENSP00000350103.3:n.1225+12G>T | |
| ENST00000456874.3:c.1720+12G>T | ENSP00000401597.2:n.1720+12G>T | |
| ENST00000507598.5:c.1840+12G>T | ENSP00000424426.1:n.1840+12G>T | |
| NM_001136536.4:c.1225+12G>T | NP_001130008.2:n.1225+12G>T | |
| NM_001170700.2:c.1720+12G>T | NP_001164171.1:n.1720+12G>T | |
| XM_006714014.2:c.2095+12G>T | XP_006714077.1:n.2095+12G>T | |
| XM_011513693.1:c.2122+12G>T | XP_011511995.1:n.2122+12G>T | |
| XM_011513694.1:c.2059+12G>T | XP_011511996.1:n.2059+12G>T | |
| XM_011513695.1:c.1933+12G>T | XP_011511997.1:n.1933+12G>T | |
| XM_011513696.1:c.1252+12G>T | XP_011511998.1:n.1252+12G>T | |
| XM_006714014.3:c.2095+12G>T | XP_006714077.1:n.2095+12G>T | |
| XM_011513693.2:c.2122+12G>T | XP_011511995.1:n.2122+12G>T | |
| XM_011513694.2:c.2059+12G>T | XP_011511996.1:n.2059+12G>T | |
| XM_011513695.2:c.1933+12G>T | XP_011511997.1:n.1933+12G>T | |
| XM_011513696.2:c.1252+12G>T | XP_011511998.1:n.1252+12G>T | |
| XM_017008191.1:c.2122+12G>T | XP_016863680.1:n.2122+12G>T | |
| XM_017008192.1:c.2122+12G>T | XP_016863681.1:n.2122+12G>T | |
| XM_017008193.1:c.1643+13466G>T | XP_016863682.1:n.1643+13466G>T | |
| XR_001741217.1:n.2280+12G>T | ||
| NM_001170700.3:c.2095+12G>T MANE Select | NP_001164171.2:n.2095+12G>T | |
| NR_160267.1:n.2257+12G>T | ||
| NM_001136536.5:c.1225+12G>T | NP_001130008.2:n.1225+12G>T | |
| NM_001378435.1:c.1162+12G>T | NP_001365364.1:n.1162+12G>T | |
| NR_165630.1:n.2171+12G>T |