Linked Data
dbSNP Id:
rs1258863630
gnomAD v2:
2-208407803-C-G
gnomAD v3:
2-207543079-C-G
gnomAD v4:
2-207543079-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.207543079C>G , CM000664.2:g.207543079C>G | GRCh38 |
| NC_000002.11:g.208407803C>G , CM000664.1:g.208407803C>G | GRCh37 |
| NC_000002.10:g.208116048C>G | NCBI36 |
| NG_023299.1:g.18188C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353267.8:c.-8-12549C>G MANE Select | ENSP00000236995.3:n.-8-12549C>G | |
| ENST00000353267.7:c.-8-12549C>G | ENSP00000236995.3:n.-8-12549C>G | |
| ENST00000421139.5:c.-7+12945C>G | ENSP00000403678.1:n.-7+12945C>G | |
| ENST00000430624.5:c.-8-12549C>G | ENSP00000405539.1:n.-8-12549C>G | |
| ENST00000432329.6:c.-8-12549C>G | ENSP00000387699.2:n.-8-12549C>G | |
| ENST00000445803.5:c.-8-12549C>G | ENSP00000407227.1:n.-8-12549C>G | |
| ENST00000452474.5:c.-9+8396C>G | ENSP00000392428.1:n.-9+8396C>G | |
| ENST00000494094.5:n.64-12549C>G | ||
| NM_004379.3:c.-8-12549C>G | NP_004370.1:n.-8-12549C>G | |
| NM_134442.3:c.-8-12549C>G | NP_604391.1:n.-8-12549C>G | |
| XM_011510645.1:c.-8-12549C>G | XP_011508947.1:n.-8-12549C>G | |
| XM_011510646.1:c.-8-12549C>G | XP_011508948.1:n.-8-12549C>G | |
| XM_011510647.1:c.-8-12549C>G | XP_011508949.1:n.-8-12549C>G | |
| XM_011510648.1:c.-8-12549C>G | XP_011508950.1:n.-8-12549C>G | |
| XM_011510649.1:c.-7+12945C>G | XP_011508951.1:n.-7+12945C>G | |
| XM_011510652.1:c.-8-12549C>G | XP_011508954.1:n.-8-12549C>G | |
| XR_241289.1:n.220-12549C>G | ||
| XR_241290.1:n.220-12549C>G | ||
| XR_241292.1:n.220-12549C>G | ||
| XR_427071.1:n.194-12549C>G | ||
| NM_001320793.1:c.-8-12549C>G | NP_001307722.1:n.-8-12549C>G | |
| NM_004379.4:c.-8-12549C>G | NP_004370.1:n.-8-12549C>G | |
| NM_134442.4:c.-8-12549C>G | NP_604391.1:n.-8-12549C>G | |
| NR_135473.1:n.244-12549C>G | ||
| XM_011510646.3:c.-8-12549C>G | XP_011508948.1:n.-8-12549C>G | |
| XM_011510647.3:c.-8-12549C>G | XP_011508949.1:n.-8-12549C>G | |
| XM_011510648.3:c.-8-12549C>G | XP_011508950.1:n.-8-12549C>G | |
| XM_017003399.2:c.-8-12549C>G | XP_016858888.1:n.-8-12549C>G | |
| XR_001738634.2:n.174-12549C>G | ||
| XR_001738635.2:n.106-12549C>G | ||
| XR_001738636.2:n.193-12549C>G | ||
| XR_001738637.2:n.174-12549C>G | ||
| XR_241290.2:n.193-12549C>G | ||
| XR_241292.2:n.193-12549C>G | ||
| NM_004379.5:c.-8-12549C>G MANE Select | NP_004370.1:n.-8-12549C>G | |
| NM_001320793.2:c.-8-12549C>G | NP_001307722.1:n.-8-12549C>G | |
| NM_001371426.1:c.-8-12549C>G | NP_001358355.1:n.-8-12549C>G | |
| NM_001371427.1:c.-8-12549C>G | NP_001358356.1:n.-8-12549C>G | |
| NM_134442.5:c.-8-12549C>G | NP_604391.1:n.-8-12549C>G | |
| NR_135473.2:n.174-12549C>G | ||
| NR_163946.1:n.174-12549C>G | ||
| NR_163947.1:n.58-12549C>G |