Linked Data
dbSNP Id:
rs200822505
ExAC:
19:15291055 T / C
gnomAD v2:
19-15291055-T-C
gnomAD v4:
19-15180244-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180244T>C , CM000681.2:g.15180244T>C | GRCh38 |
| NC_000019.9:g.15291055T>C , CM000681.1:g.15291055T>C | GRCh37 |
| NC_000019.8:g.15152055T>C | NCBI36 |
| NG_009819.1:g.25738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3155A>G MANE Select | ENSP00000263388.1:p.Glu1052Gly | |
| ENST00000263388.6:c.3155A>G | ENSP00000263388.1:p.Glu1052Gly | |
| ENST00000601011.1:c.2996A>G | ENSP00000473138.1:p.Glu999Gly | |
| NM_000435.2:c.3155A>G | NP_000426.2:p.Glu1052Gly | |
| XM_005259924.3:c.2999A>G | XP_005259981.1:p.Glu1000Gly | |
| XM_005259924.4:c.2999A>G | XP_005259981.1:p.Glu1000Gly | |
| NM_000435.3:c.3155A>G MANE Select | NP_000426.2:p.Glu1052Gly |