Linked Data
dbSNP Id:
rs893817
gnomAD v2:
15-74229065-G-A
gnomAD v3:
15-73936724-G-A
gnomAD v4:
15-73936724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73936724G>A , CM000677.2:g.73936724G>A | GRCh38 |
| NC_000015.9:g.74229065G>A , CM000677.1:g.74229065G>A | GRCh37 |
| NC_000015.8:g.72016118G>A | NCBI36 |
| NG_011466.1:g.15277G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261921.8:c.1103-6130G>A MANE Select | ENSP00000261921.7:n.1103-6130G>A | |
| ENST00000261921.7:c.1103-6130G>A | ENSP00000261921.7:n.1103-6130G>A | |
| ENST00000566011.5:c.1103-5151G>A | ENSP00000457827.1:n.1103-5151G>A | |
| NM_005576.2:c.1103-6130G>A | NP_005567.2:n.1103-6130G>A | |
| XM_011521555.1:c.1103-5151G>A | XP_011519857.1:n.1103-5151G>A | |
| XR_931824.1:n.1436-5151G>A | ||
| NM_005576.3:c.1103-6130G>A | NP_005567.2:n.1103-6130G>A | |
| XM_011521555.2:c.1103-5151G>A | XP_011519857.1:n.1103-5151G>A | |
| XR_931824.2:n.1425-5151G>A | ||
| NM_005576.4:c.1103-6130G>A MANE Select | NP_005567.2:n.1103-6130G>A |