Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055549A>C , CM000675.2:g.33055549A>C | GRCh38 |
| NC_000013.10:g.33629686A>C , CM000675.1:g.33629686A>C | GRCh37 |
| NC_000013.9:g.32527686A>C | NCBI36 |
| NG_011485.1:g.44116A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1599+234A>C MANE Select | ENSP00000369442.3:n.1599+234A>C | |
| ENST00000380099.3:c.1599+234A>C | ENSP00000369442.3:n.1599+234A>C | |
| ENST00000487852.1:n.1657+184A>C | ||
| NM_004795.3:c.1599+234A>C | NP_004786.2:n.1599+234A>C | |
| XM_006719895.1:c.678+234A>C | XP_006719958.1:n.678+234A>C | |
| XM_006719895.2:c.678+234A>C | XP_006719958.1:n.678+234A>C | |
| NM_004795.4:c.1599+234A>C MANE Select | NP_004786.2:n.1599+234A>C |