Linked Data
gnomAD v4:
19-48965325-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965325G>C , CM000681.2:g.48965325G>C | GRCh38 |
| NC_000019.9:g.49468582G>C , CM000681.1:g.49468582G>C | GRCh37 |
| NC_000019.8:g.54160394G>C | NCBI36 |
| NG_008152.1:g.5017G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-183G>C MANE Select | ENSP00000366525.2:n.-183G>C | |
| ENST00000331825.10:c.-183G>C | ENSP00000366525.2:n.-183G>C | |
| ENST00000622577.2:c.-183G>C | ENSP00000484043.1:n.-183G>C | |
| NM_000146.3:c.-183G>C | NP_000137.2:n.-183G>C | |
| XM_024451447.1:c.328G>C | XP_024307215.1:p.Ala110Pro | |
| NM_000146.4:c.-183G>C MANE Select | NP_000137.2:n.-183G>C |