Linked Data
dbSNP Id:
rs1172565762
gnomAD v2:
3-119530389-T-A
gnomAD v3:
3-119811542-T-A
gnomAD v4:
3-119811542-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119811542T>A , CM000665.2:g.119811542T>A | GRCh38 |
| NC_000003.11:g.119530389T>A , CM000665.1:g.119530389T>A | GRCh37 |
| NC_000003.10:g.121013079T>A | NCBI36 |
| NG_011856.1:g.36059T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393716.8:c.335T>A MANE Select | ENSP00000377319.3:p.Ile112Asn | |
| ENST00000466380.6:c.335T>A | ENSP00000420297.2:p.Ile112Asn | |
| ENST00000337940.4:c.452T>A | ENSP00000336528.4:p.Ile151Asn | |
| ENST00000393716.6:c.335T>A | ENSP00000377319.2:p.Ile112Asn | |
| ENST00000466380.5:c.335T>A | ENSP00000420297.1:p.Ile112Asn | |
| ENST00000493757.1:n.467T>A | ||
| NM_003889.3:c.335T>A | NP_003880.3:p.Ile112Asn | |
| NM_022002.2:c.452T>A | NP_071285.1:p.Ile151Asn | |
| NM_033013.2:c.335T>A | NP_148934.1:p.Ile112Asn | |
| NM_003889.4:c.335T>A MANE Select | NP_003880.3:p.Ile112Asn | |
| NM_022002.3:c.452T>A | NP_071285.1:p.Ile151Asn | |
| NM_033013.3:c.335T>A | NP_148934.1:p.Ile112Asn |