Linked Data
dbSNP Id:
rs2086852311
gnomAD v4:
15-44711109-A-G
MyVariant Identifiers:
chr15:g.45003307A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711109A>G , CM000677.2:g.44711109A>G | GRCh38 |
| NC_000015.9:g.45003307A>G , CM000677.1:g.45003307A>G | GRCh37 |
| NC_000015.8:g.42790599A>G | NCBI36 |
| NG_012920.1:g.4623A>G | |
| NG_012920.2:g.4633A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-343T>C MANE Select | ENSP00000508024.1:n.-343T>C | |
| ENST00000558573.1:n.208T>C | ||
| XM_011521338.1:c.-343T>C | XP_011519640.1:n.-343T>C | |
| XM_011521339.1:c.-224T>C | XP_011519641.1:n.-224T>C | |
| XM_011521340.1:c.-165T>C | XP_011519642.1:n.-165T>C | |
| XM_011521343.1:c.-427T>C | XP_011519645.1:n.-427T>C | |
| XM_011521345.1:c.-398T>C | XP_011519647.1:n.-398T>C | |
| XM_011521338.3:c.-343T>C | XP_011519640.1:n.-343T>C | |
| XM_011521339.3:c.-224T>C | XP_011519641.1:n.-224T>C | |
| XM_011521340.3:c.-165T>C | XP_011519642.1:n.-165T>C | |
| XM_011521343.3:c.-427T>C | XP_011519645.1:n.-427T>C | |
| XM_011521345.3:c.-398T>C | XP_011519647.1:n.-398T>C | |
| NM_001387260.1:c.-76+223T>C | NP_001374189.1:n.-76+223T>C | |
| NM_001387261.1:c.-165T>C | NP_001374190.1:n.-165T>C | |
| NM_001387262.1:c.-433T>C | NP_001374191.1:n.-433T>C | |
| NM_001387263.1:c.-343T>C MANE Select | NP_001374192.1:n.-343T>C |