Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575158C>A , CM000664.2:g.189575158C>A | GRCh38 |
| NC_000002.11:g.190439884C>A , CM000664.1:g.190439884C>A | GRCh37 |
| NC_000002.10:g.190148129C>A | NCBI36 |
| NG_009027.1:g.10654G>T , LRG_837:g.10654G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.271+3G>T MANE Select | ENSP00000261024.3:n.271+3G>T | |
| ENST00000261024.6:c.271+3G>T | ENSP00000261024.2:n.271+3G>T | |
| ENST00000427241.5:c.271+3G>T | ENSP00000390005.1:n.271+3G>T | |
| ENST00000479598.5:n.552+3G>T | ||
| NM_014585.5:c.271+3G>T , LRG_837t1:c.271+3G>T | NP_055400.1:n.271+3G>T | |
| XM_005246505.1:c.151+3G>T | XP_005246562.1:n.151+3G>T | |
| XM_005246505.2:c.151+3G>T | XP_005246562.1:n.151+3G>T | |
| XM_017003938.2:c.151+3G>T | XP_016859427.1:n.151+3G>T | |
| NM_014585.6:c.271+3G>T MANE Select | NP_055400.1:n.271+3G>T |