Linked Data
dbSNP Id:
rs1479571569
gnomAD v2:
19-15295018-G-C
gnomAD v3:
19-15184207-G-C
gnomAD v4:
19-15184207-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15184207G>C , CM000681.2:g.15184207G>C | GRCh38 |
| NC_000019.9:g.15295018G>C , CM000681.1:g.15295018G>C | GRCh37 |
| NC_000019.8:g.15156018G>C | NCBI36 |
| NG_009819.1:g.21775C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.2566+88C>G MANE Select | ENSP00000263388.1:n.2566+88C>G | |
| ENST00000263388.6:c.2566+88C>G | ENSP00000263388.1:n.2566+88C>G | |
| ENST00000601011.1:c.2407+699C>G | ENSP00000473138.1:n.2407+699C>G | |
| NM_000435.2:c.2566+88C>G | NP_000426.2:n.2566+88C>G | |
| XM_005259924.3:c.2410+699C>G | XP_005259981.1:n.2410+699C>G | |
| XM_005259924.4:c.2410+699C>G | XP_005259981.1:n.2410+699C>G | |
| NM_000435.3:c.2566+88C>G MANE Select | NP_000426.2:n.2566+88C>G |