Linked Data
dbSNP Id:
rs949136602
gnomAD v2:
15-45003539-T-C
gnomAD v3:
15-44711341-T-C
gnomAD v4:
15-44711341-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711341T>C , CM000677.2:g.44711341T>C | GRCh38 |
| NC_000015.9:g.45003539T>C , CM000677.1:g.45003539T>C | GRCh37 |
| NC_000015.8:g.42790831T>C | NCBI36 |
| NG_012920.1:g.4855T>C | |
| NG_012920.2:g.4865T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011521338.1:c.-575A>G | XP_011519640.1:n.-575A>G | |
| XM_011521339.1:c.-456A>G | XP_011519641.1:n.-456A>G | |
| XM_011521340.1:c.-397A>G | XP_011519642.1:n.-397A>G | |
| XM_011521343.1:c.-659A>G | XP_011519645.1:n.-659A>G | |
| XM_011521345.1:c.-630A>G | XP_011519647.1:n.-630A>G | |
| XM_011521338.3:c.-575A>G | XP_011519640.1:n.-575A>G | |
| XM_011521339.3:c.-456A>G | XP_011519641.1:n.-456A>G | |
| XM_011521340.3:c.-397A>G | XP_011519642.1:n.-397A>G | |
| XM_011521343.3:c.-659A>G | XP_011519645.1:n.-659A>G | |
| XM_011521345.3:c.-630A>G | XP_011519647.1:n.-630A>G | |
| NM_001387260.1:c.-85A>G | NP_001374189.1:n.-85A>G |