Linked Data
dbSNP Id:
rs758398917
gnomAD v2:
19-15290861-C-G
gnomAD v4:
19-15180050-C-G
MyVariant Identifiers:
chr19:g.15290861_15290862delinsGT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180050C>G , CM000681.2:g.15180050C>G | GRCh38 |
| NC_000019.9:g.15290861C>G , CM000681.1:g.15290861C>G | GRCh37 |
| NC_000019.8:g.15151861C>G | NCBI36 |
| NG_009819.1:g.25932G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3327+22G>C MANE Select | ENSP00000263388.1:n.3327+22G>C | |
| ENST00000263388.6:c.3327+22G>C | ENSP00000263388.1:n.3327+22G>C | |
| ENST00000601011.1:c.3168+22G>C | ENSP00000473138.1:n.3168+22G>C | |
| NM_000435.2:c.3327+22G>C | NP_000426.2:n.3327+22G>C | |
| XM_005259924.3:c.3171+22G>C | XP_005259981.1:n.3171+22G>C | |
| XM_005259924.4:c.3171+22G>C | XP_005259981.1:n.3171+22G>C | |
| NM_000435.3:c.3327+22G>C MANE Select | NP_000426.2:n.3327+22G>C |