Linked Data
gnomAD v4:
2-112832713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832713G>A , CM000664.2:g.112832713G>A | GRCh38 |
| NC_000002.11:g.113590290G>A , CM000664.1:g.113590290G>A | GRCh37 |
| NC_000002.10:g.113306761G>A | NCBI36 |
| NG_008851.1:g.9067C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.415C>T MANE Select | ENSP00000263341.2:p.Pro139Ser | |
| ENST00000263341.6:c.415C>T | ENSP00000263341.2:p.Pro139Ser | |
| ENST00000418817.5:c.415C>T | ENSP00000407219.1:p.Pro139Ser | |
| ENST00000487639.1:n.316C>T | ||
| ENST00000491056.5:n.1222C>T | ||
| NM_000576.2:c.415C>T | NP_000567.1:p.Pro139Ser | |
| XM_006712496.1:c.181C>T | XP_006712559.1:p.Pro61Ser | |
| XM_017003988.2:c.322C>T | XP_016859477.1:p.Pro108Ser | |
| NM_000576.3:c.415C>T MANE Select | NP_000567.1:p.Pro139Ser |