Linked Data
dbSNP Id:
rs995230650
gnomAD v2:
19-12768078-A-C
gnomAD v3:
19-12657264-A-C
gnomAD v4:
19-12657264-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657264A>C , CM000681.2:g.12657264A>C | GRCh38 |
| NC_000019.9:g.12768078A>C , CM000681.1:g.12768078A>C | GRCh37 |
| NC_000019.8:g.12629078A>C | NCBI36 |
| NG_008318.1:g.14514T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1419+182T>G MANE Select | ENSP00000395473.2:n.1419+182T>G | |
| ENST00000221363.8:c.1416+182T>G | ENSP00000221363.4:n.1416+182T>G | |
| ENST00000456935.6:c.1419+182T>G | ENSP00000395473.2:n.1419+182T>G | |
| ENST00000466794.5:n.1318+182T>G | ||
| ENST00000495617.1:n.595+182T>G | ||
| ENST00000593686.1:c.29+182T>G | ||
| ENST00000595880.5:n.16+100T>G | ||
| NM_000528.3:c.1419+182T>G | NP_000519.2:n.1419+182T>G | |
| NM_001173498.1:c.1416+182T>G | NP_001166969.1:n.1416+182T>G | |
| XM_005259913.1:c.1422+182T>G | XP_005259970.1:n.1422+182T>G | |
| XM_011528017.1:c.318+182T>G | XP_011526319.1:n.318+182T>G | |
| XM_005259913.2:c.1422+182T>G | XP_005259970.1:n.1422+182T>G | |
| XM_024451518.1:c.318+182T>G | XP_024307286.1:n.318+182T>G | |
| NM_000528.4:c.1419+182T>G MANE Select | NP_000519.2:n.1419+182T>G | |
| NM_001173498.2:c.1416+182T>G | NP_001166969.1:n.1416+182T>G |