Linked Data
ClinVar Variation Id:
422176
ClinVar RCV Id:
RCV000481769
dbSNP Id:
rs1064795606
gnomAD v2:
18-43480959-A-G
gnomAD v3:
18-45900994-A-G
gnomAD v4:
18-45900994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45900994A>G , CM000680.2:g.45900994A>G | GRCh38 |
| NC_000018.9:g.43480959A>G , CM000680.1:g.43480959A>G | GRCh37 |
| NC_000018.8:g.41734957A>G | NCBI36 |
| NG_042838.1:g.71346T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586655.2:n.2963+2T>C | ||
| ENST00000587884.2:c.4772+2T>C | ENSP00000466990.2:n.4772+2T>C | |
| ENST00000590884.6:c.4646+2T>C | ENSP00000466403.2:n.4646+2T>C | |
| ENST00000592272.6:c.4646+2T>C | ENSP00000467464.2:n.4646+2T>C | |
| ENST00000696482.1:c.4386+2T>C | ENSP00000512656.1:n.4386+2T>C | |
| ENST00000696483.1:c.4646+2T>C | ENSP00000512657.1:n.4646+2T>C | |
| ENST00000696484.1:c.4646+2T>C | ENSP00000512658.1:n.4646+2T>C | |
| ENST00000696485.1:c.4646+2T>C | ENSP00000512659.1:n.4646+2T>C | |
| ENST00000696489.1:c.4646+2T>C | ENSP00000512660.1:n.4646+2T>C | |
| ENST00000696490.1:c.4646+2T>C | ENSP00000512661.1:n.4646+2T>C | |
| ENST00000696785.1:n.1719T>C | ||
| ENST00000282041.11:c.4646+2T>C MANE Select | ENSP00000282041.4:n.4646+2T>C | |
| ENST00000282041.9:c.4646+2T>C | ENSP00000282041.4:n.4646+2T>C | |
| ENST00000585906.5:n.1425+2T>C | ||
| ENST00000587884.1:c.*386+2T>C | ENSP00000466990.1:n.*386+2T>C | |
| ENST00000590884.5:c.1271+2T>C | ENSP00000466403.1:n.1271+2T>C | |
| ENST00000592272.5:c.1271+2T>C | ENSP00000467464.1:n.1271+2T>C | |
| NM_020964.2:c.4646+2T>C | NP_066015.2:n.4646+2T>C | |
| XM_011526120.1:c.4673+2T>C | XP_011524422.1:n.4673+2T>C | |
| XM_011526121.1:c.4673+2T>C | XP_011524423.1:n.4673+2T>C | |
| XM_011526122.1:c.4646+2T>C | XP_011524424.1:n.4646+2T>C | |
| XM_011526123.1:c.4673+2T>C | XP_011524425.1:n.4673+2T>C | |
| XM_011526124.1:c.4673+2T>C | XP_011524426.1:n.4673+2T>C | |
| XM_011526125.1:c.4532+2T>C | XP_011524427.1:n.4532+2T>C | |
| XM_011526126.1:c.3608+2T>C | XP_011524428.1:n.3608+2T>C | |
| XM_011526127.1:c.4673+2T>C | XP_011524429.1:n.4673+2T>C | |
| XM_011526128.1:c.4673+2T>C | XP_011524430.1:n.4673+2T>C | |
| XR_935244.1:n.4746+2T>C | ||
| NM_020964.3:c.4646+2T>C MANE Select | NP_066015.2:n.4646+2T>C | |
| XM_017025889.1:c.4646+2T>C | XP_016881378.1:n.4646+2T>C | |
| XM_017025890.2:c.4646+2T>C | XP_016881379.1:n.4646+2T>C | |
| XM_017025891.1:c.4505+2T>C | XP_016881380.1:n.4505+2T>C | |
| XM_017025892.1:c.3581+2T>C | XP_016881381.1:n.3581+2T>C | |
| XM_017025893.1:c.1271+2T>C | XP_016881382.1:n.1271+2T>C | |
| XR_001753256.1:n.4728+2T>C | ||
| XR_001753257.1:n.4728+2T>C |