Linked Data
dbSNP Id:
rs748882815
ExAC:
13:28498407 G / T
gnomAD v2:
13-28498407-G-T
gnomAD v4:
13-27924270-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924270G>T , CM000675.2:g.27924270G>T | GRCh38 |
| NC_000013.10:g.28498407G>T , CM000675.1:g.28498407G>T | GRCh37 |
| NC_000013.9:g.27396407G>T | NCBI36 |
| NG_008183.1:g.9240G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.421G>T MANE Select | ENSP00000370421.4:p.Ala141Ser | |
| ENST00000381033.4:c.421G>T | ENSP00000370421.4:p.Ala141Ser | |
| NM_000209.3:c.421G>T | NP_000200.1:p.Ala141Ser | |
| XR_941578.1:n.3548G>T | ||
| XR_941579.1:n.2147G>T | ||
| XR_941580.1:n.1063G>T | ||
| XR_941578.2:n.3560G>T | ||
| XR_941580.2:n.1075G>T | ||
| NM_000209.4:c.421G>T MANE Select | NP_000200.1:p.Ala141Ser |