Linked Data
dbSNP Id:
rs1174625611
gnomAD v2:
19-15303029-G-T
gnomAD v3:
19-15192218-G-T
gnomAD v4:
19-15192218-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192218G>T , CM000681.2:g.15192218G>T | GRCh38 |
| NC_000019.9:g.15303029G>T , CM000681.1:g.15303029G>T | GRCh37 |
| NC_000019.8:g.15164029G>T | NCBI36 |
| NG_009819.1:g.13764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.421C>A MANE Select | ENSP00000263388.1:p.Arg141Ser | |
| ENST00000263388.6:c.421C>A | ENSP00000263388.1:p.Arg141Ser | |
| ENST00000601011.1:c.418C>A | ENSP00000473138.1:p.Arg140Ser | |
| NM_000435.2:c.421C>A | NP_000426.2:p.Arg141Ser | |
| XM_005259924.3:c.421C>A | XP_005259981.1:p.Arg141Ser | |
| XM_005259924.4:c.421C>A | XP_005259981.1:p.Arg141Ser | |
| NM_000435.3:c.421C>A MANE Select | NP_000426.2:p.Arg141Ser |