Linked Data
dbSNP Id:
rs772474421
ExAC:
19:18898368 T / C
gnomAD v2:
19-18898368-T-C
gnomAD v4:
19-18787559-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787559T>C , CM000681.2:g.18787559T>C | GRCh38 |
| NC_000019.9:g.18898368T>C , CM000681.1:g.18898368T>C | GRCh37 |
| NC_000019.8:g.18759368T>C | NCBI36 |
| NG_007070.1:g.8747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1067A>G MANE Select | ENSP00000222271.2:p.Asn356Ser | |
| ENST00000222271.6:c.1067A>G | ENSP00000222271.2:p.Asn356Ser | |
| ENST00000425807.1:c.908A>G | ENSP00000403792.1:p.Asn303Ser | |
| ENST00000542601.6:c.968A>G | ENSP00000439156.2:p.Asn323Ser | |
| NM_000095.2:c.1067A>G | NP_000086.2:p.Asn356Ser | |
| NM_000095.3:c.1067A>G MANE Select | NP_000086.2:p.Asn356Ser |