Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837646A>T , CM000685.2:g.154837646A>T | GRCh38 |
| NC_000023.10:g.154065921A>T , CM000685.1:g.154065921A>T | GRCh37 |
| NC_000023.9:g.153719115A>T | NCBI36 |
| NG_011403.1:g.190078T>A | |
| NG_033065.1:g.2017T>A | |
| NG_011403.2:g.190078T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.7007T>A MANE Select | ENSP00000353393.4:p.Ile2336Asn | |
| ENST00000644698.1:c.740T>A | ENSP00000495706.1:p.Ile247Asn | |
| ENST00000330287.10:c.602T>A | ENSP00000327895.6:p.Ile201Asn | |
| ENST00000360256.8:c.7007T>A | ENSP00000353393.4:p.Ile2336Asn | |
| NM_000132.3:c.7007T>A | NP_000123.1:p.Ile2336Asn | |
| NM_019863.2:c.602T>A | NP_063916.1:p.Ile201Asn | |
| XM_011531126.1:c.6902T>A | XP_011529428.1:p.Ile2301Asn | |
| NM_000132.4:c.7007T>A MANE Select | NP_000123.1:p.Ile2336Asn | |
| NM_019863.3:c.602T>A | NP_063916.1:p.Ile201Asn |