Linked Data
dbSNP Id:
rs763249292
gnomAD v2:
15-48426411-T-A
gnomAD v3:
15-48134214-T-A
gnomAD v4:
15-48134214-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134214T>A , CM000677.2:g.48134214T>A | GRCh38 |
| NC_000015.9:g.48426411T>A , CM000677.1:g.48426411T>A | GRCh37 |
| NC_000015.8:g.46213703T>A | NCBI36 |
| NG_011500.1:g.18243T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341459.8:c.302-44T>A MANE Select | ENSP00000341550.3:n.302-44T>A | |
| ENST00000341459.7:c.302-44T>A | ENSP00000341550.3:n.302-44T>A | |
| ENST00000449382.2:c.122-44T>A | ENSP00000389966.2:n.122-44T>A | |
| ENST00000463289.1:n.62-44T>A | ||
| NM_205850.2:c.302-44T>A | NP_995322.1:n.302-44T>A | |
| XM_011521458.1:c.302-44T>A | XP_011519760.1:n.302-44T>A | |
| XM_017022079.1:c.-38-44T>A | XP_016877568.1:n.-38-44T>A | |
| XM_017022080.1:c.-38-44T>A | XP_016877569.1:n.-38-44T>A | |
| XM_024449901.1:c.-38-44T>A | XP_024305669.1:n.-38-44T>A | |
| NM_205850.3:c.302-44T>A MANE Select | NP_995322.1:n.302-44T>A |