Linked Data
dbSNP Id:
rs1282150897
gnomAD v2:
13-28498439-G-C
gnomAD v3:
13-27924302-G-C
gnomAD v4:
13-27924302-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924302G>C , CM000675.2:g.27924302G>C | GRCh38 |
| NC_000013.10:g.28498439G>C , CM000675.1:g.28498439G>C | GRCh37 |
| NC_000013.9:g.27396439G>C | NCBI36 |
| NG_008183.1:g.9272G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.453G>C MANE Select | ENSP00000370421.4:p.Thr151= | |
| ENST00000381033.4:c.453G>C | ENSP00000370421.4:p.Thr151= | |
| NM_000209.3:c.453G>C | NP_000200.1:p.Thr151= | |
| XR_941579.1:n.2179G>C | ||
| XR_941580.1:n.1095G>C | ||
| XR_941578.2:n.3592G>C | ||
| XR_941580.2:n.1107G>C | ||
| NM_000209.4:c.453G>C MANE Select | NP_000200.1:p.Thr151= |