Linked Data
dbSNP Id:
rs370405023
ExAC:
8:37630282 A / T
gnomAD v2:
8-37630282-A-T
gnomAD v4:
8-37772764-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772764A>T , CM000670.2:g.37772764A>T | GRCh38 |
| NC_000008.10:g.37630282A>T , CM000670.1:g.37630282A>T | GRCh37 |
| NC_000008.9:g.37749440A>T | NCBI36 |
| NG_053030.1:g.16012A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.329A>T MANE Select | ENSP00000333551.3:p.Asn110Ile | |
| ENST00000328195.7:c.329A>T | ENSP00000333551.3:p.Asn110Ile | |
| ENST00000518036.5:c.*181A>T | ENSP00000428005.1:n.*181A>T | |
| ENST00000521631.1:n.12A>T | ||
| ENST00000523187.5:c.173A>T | ENSP00000427886.1:p.Asn58Ile | |
| ENST00000523358.5:c.329A>T | ENSP00000427778.1:p.Asn110Ile | |
| ENST00000523521.1:c.86A>T | ENSP00000429425.1:p.Asn29Ile | |
| NM_007198.3:c.329A>T | NP_009129.1:p.Asn110Ile | |
| NM_001349346.1:c.329A>T | NP_001336275.1:p.Asn110Ile | |
| NM_001349347.1:c.323A>T | NP_001336276.1:p.Asn108Ile | |
| NM_001349348.1:c.173A>T | NP_001336277.1:p.Asn58Ile | |
| NM_007198.4:c.329A>T MANE Select | NP_009129.1:p.Asn110Ile | |
| NM_001349346.2:c.329A>T | NP_001336275.1:p.Asn110Ile | |
| NM_001349347.2:c.323A>T | NP_001336276.1:p.Asn108Ile | |
| NM_001349348.2:c.173A>T | NP_001336277.1:p.Asn58Ile |