Linked Data
dbSNP Id:
rs142014203
gnomAD v2:
8-63258917-T-G
gnomAD v3:
8-62346358-T-G
gnomAD v4:
8-62346358-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.62346358T>G , CM000670.2:g.62346358T>G | GRCh38 |
| NC_000008.10:g.63258917T>G , CM000670.1:g.63258917T>G | GRCh37 |
| NC_000008.9:g.63421471T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519049.6:c.54+97231T>G | ENSP00000501734.1:n.54+97231T>G | |
| ENST00000623646.3:c.54+97231T>G MANE Select | ENSP00000501908.1:n.54+97231T>G | |
| ENST00000674732.1:c.54+97231T>G | ENSP00000501789.1:n.54+97231T>G | |
| ENST00000674746.1:c.54+97231T>G | ENSP00000502044.1:n.54+97231T>G | |
| ENST00000674864.1:c.54+97231T>G | ENSP00000502526.1:n.54+97231T>G | |
| ENST00000675749.1:c.54+97231T>G | ENSP00000502179.1:n.54+97231T>G | |
| ENST00000519049.5:n.443+97231T>G | ||
| ENST00000523211.5:c.54+97231T>G | ENSP00000429073.1:n.54+97231T>G | |
| ENST00000523367.1:n.459+97231T>G | ||
| ENST00000524201.1:c.54+97231T>G | ENSP00000429393.1:n.54+97231T>G | |
| NM_001304533.1:c.54+97231T>G | NP_001291462.1:n.54+97231T>G | |
| NR_130764.1:n.186+97231T>G | ||
| XM_011517511.1:c.54+97231T>G | XP_011515813.1:n.54+97231T>G | |
| XM_011517512.1:c.54+97231T>G | XP_011515814.1:n.54+97231T>G | |
| XM_011517513.1:c.54+97231T>G | XP_011515815.1:n.54+97231T>G | |
| XM_011517511.2:c.54+97231T>G | XP_011515813.1:n.54+97231T>G | |
| XM_011517512.2:c.54+97231T>G | XP_011515814.1:n.54+97231T>G | |
| XM_017013359.1:c.54+97231T>G | XP_016868848.1:n.54+97231T>G | |
| XM_017013360.1:c.54+97231T>G | XP_016868849.1:n.54+97231T>G | |
| NM_001304533.2:c.54+97231T>G | NP_001291462.1:n.54+97231T>G | |
| NR_130764.2:n.274+97231T>G | ||
| NM_001304533.3:c.54+97231T>G MANE Select | NP_001291462.1:n.54+97231T>G |