Linked Data
dbSNP Id:
rs757228288
ExAC:
19:12997881 T / C
gnomAD v2:
19-12997881-T-C
gnomAD v3:
19-12887067-T-C
gnomAD v4:
19-12887067-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887067T>C , CM000681.2:g.12887067T>C | GRCh38 |
| NC_000019.9:g.12997881T>C , CM000681.1:g.12997881T>C | GRCh37 |
| NC_000019.8:g.12858881T>C | NCBI36 |
| NG_009292.1:g.908T>C | |
| NG_013087.1:g.5137A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.74A>G MANE Select | ENSP00000264834.3:p.Asp25Gly | |
| ENST00000264834.4:c.74A>G | ENSP00000264834.3:p.Asp25Gly | |
| NM_006563.3:c.74A>G | NP_006554.1:p.Asp25Gly | |
| XM_011527642.1:c.-130A>G | XP_011525944.1:n.-130A>G | |
| NM_006563.4:c.74A>G | NP_006554.1:p.Asp25Gly | |
| XM_011527642.2:c.-130A>G | XP_011525944.1:n.-130A>G | |
| NM_006563.5:c.74A>G MANE Select | NP_006554.1:p.Asp25Gly |