Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459686A>T , CM000675.2:g.48459686A>T | GRCh38 |
| NC_000013.10:g.49033822A>T , CM000675.1:g.49033822A>T | GRCh37 |
| NC_000013.9:g.47931823A>T | NCBI36 |
| NG_009009.1:g.160940A>T , LRG_517:g.160940A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1961-2A>T MANE Select | NP_000312.2:n.1961-2A>T |
| ENST00000267163.6:c.1961-2A>T MANE Select | ENSP00000267163.4:n.1961-2A>T |
| NM_000321.2:c.1961-2A>T , LRG_517t1:c.1961-2A>T | NP_000312.2:n.1961-2A>T |
| ENST00000267163.4:c.1961-2A>T | ENSP00000267163.4:n.1961-2A>T |
| ENST00000643064.1:c.194+78243A>T | |
| ENST00000650461.1:c.1961-2A>T | ENSP00000497193.1:n.1961-2A>T |
| XM_011535171.1:c.1700-2A>T | XP_011533473.1:n.1700-2A>T |
| XM_011535171.2:c.1700-2A>T | XP_011533473.1:n.1700-2A>T |