Linked Data
dbSNP Id:
rs780074630
ExAC:
19:36340460 T / C
gnomAD v2:
19-36340460-T-C
gnomAD v4:
19-35849558-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849558T>C , CM000681.2:g.35849558T>C | GRCh38 |
| NC_000019.9:g.36340460T>C , CM000681.1:g.36340460T>C | GRCh37 |
| NC_000019.8:g.41032300T>C | NCBI36 |
| NG_013356.2:g.24730A>G , LRG_693:g.24730A>G | |
| NG_051206.1:g.2924T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.704A>G MANE Select | ENSP00000368190.4:p.Asn235Ser | |
| ENST00000353632.6:c.704A>G | ENSP00000343634.5:p.Asn235Ser | |
| ENST00000378910.9:c.704A>G | ENSP00000368190.4:p.Asn235Ser | |
| NM_004646.3:c.704A>G , LRG_693t1:c.704A>G | NP_004637.1:p.Asn235Ser | |
| NM_004646.4:c.704A>G MANE Select | NP_004637.1:p.Asn235Ser |