Linked Data
dbSNP Id:
rs16839883
gnomAD v2:
2-208429342-A-G
gnomAD v3:
2-207564618-A-G
gnomAD v4:
2-207564618-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.207564618A>G , CM000664.2:g.207564618A>G | GRCh38 |
| NC_000002.11:g.208429342A>G , CM000664.1:g.208429342A>G | GRCh37 |
| NC_000002.10:g.208137587A>G | NCBI36 |
| NG_023299.1:g.39727A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353267.8:c.262-2845A>G MANE Select | ENSP00000236995.3:n.262-2845A>G | |
| ENST00000353267.7:c.262-2845A>G | ENSP00000236995.3:n.262-2845A>G | |
| ENST00000418081.5:c.102-2845A>G | ||
| ENST00000421139.5:c.142-2845A>G | ENSP00000403678.1:n.142-2845A>G | |
| ENST00000430624.5:c.262-2845A>G | ENSP00000405539.1:n.262-2845A>G | |
| ENST00000432329.6:c.304-2845A>G | ENSP00000387699.2:n.304-2845A>G | |
| ENST00000445803.5:c.304-2845A>G | ENSP00000407227.1:n.304-2845A>G | |
| ENST00000448277.5:c.142-2845A>G | ENSP00000405711.1:n.142-2845A>G | |
| ENST00000452474.5:c.304-2845A>G | ENSP00000392428.1:n.304-2845A>G | |
| ENST00000457101.5:c.184-2845A>G | ENSP00000391125.1:n.184-2845A>G | |
| ENST00000464407.1:n.233-2845A>G | ||
| ENST00000480189.5:n.282-2845A>G | ||
| ENST00000494094.5:n.333-2845A>G | ||
| NM_004379.3:c.262-2845A>G | NP_004370.1:n.262-2845A>G | |
| NM_134442.3:c.304-2845A>G | NP_604391.1:n.304-2845A>G | |
| XM_011510645.1:c.304-2845A>G | XP_011508947.1:n.304-2845A>G | |
| XM_011510646.1:c.304-2845A>G | XP_011508948.1:n.304-2845A>G | |
| XM_011510647.1:c.262-2845A>G | XP_011508949.1:n.262-2845A>G | |
| XM_011510648.1:c.304-2845A>G | XP_011508950.1:n.304-2845A>G | |
| XM_011510649.1:c.184-2845A>G | XP_011508951.1:n.184-2845A>G | |
| XM_011510650.1:c.184-2845A>G | XP_011508952.1:n.184-2845A>G | |
| XM_011510651.1:c.142-2845A>G | XP_011508953.1:n.142-2845A>G | |
| XM_011510652.1:c.304-2845A>G | XP_011508954.1:n.304-2845A>G | |
| XM_011510653.1:c.-320-2845A>G | XP_011508955.1:n.-320-2845A>G | |
| XR_241289.1:n.531-2845A>G | ||
| XR_241290.1:n.531-2845A>G | ||
| XR_241292.1:n.531-2845A>G | ||
| XR_427071.1:n.463-2845A>G | ||
| XR_922862.1:n.319-2845A>G | ||
| NM_001320793.1:c.262-2845A>G | NP_001307722.1:n.262-2845A>G | |
| NM_004379.4:c.262-2845A>G | NP_004370.1:n.262-2845A>G | |
| NM_134442.4:c.304-2845A>G | NP_604391.1:n.304-2845A>G | |
| NR_135473.1:n.555-2845A>G | ||
| XM_011510646.3:c.304-2845A>G | XP_011508948.1:n.304-2845A>G | |
| XM_011510647.3:c.262-2845A>G | XP_011508949.1:n.262-2845A>G | |
| XM_011510648.3:c.304-2845A>G | XP_011508950.1:n.304-2845A>G | |
| XM_011510650.3:c.184-2845A>G | XP_011508952.1:n.184-2845A>G | |
| XM_011510651.2:c.142-2845A>G | XP_011508953.1:n.142-2845A>G | |
| XM_017003399.2:c.262-2845A>G | XP_016858888.1:n.262-2845A>G | |
| XM_017003401.2:c.-450-2845A>G | XP_016858890.1:n.-450-2845A>G | |
| XR_001738634.2:n.443-2845A>G | ||
| XR_001738635.2:n.375-2845A>G | ||
| XR_001738636.2:n.504-2845A>G | ||
| XR_001738637.2:n.443-2845A>G | ||
| XR_241290.2:n.504-2845A>G | ||
| XR_241292.2:n.504-2845A>G | ||
| NM_004379.5:c.262-2845A>G MANE Select | NP_004370.1:n.262-2845A>G | |
| NM_001320793.2:c.262-2845A>G | NP_001307722.1:n.262-2845A>G | |
| NM_001371426.1:c.304-2845A>G | NP_001358355.1:n.304-2845A>G | |
| NM_001371427.1:c.262-2845A>G | NP_001358356.1:n.262-2845A>G | |
| NM_001371428.1:c.142-2845A>G | NP_001358357.1:n.142-2845A>G | |
| NM_134442.5:c.304-2845A>G | NP_604391.1:n.304-2845A>G | |
| NR_135473.2:n.485-2845A>G | ||
| NR_163946.1:n.443-2845A>G | ||
| NR_163947.1:n.327-2845A>G |