Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21768594A>C , CM000680.2:g.21768594A>C | GRCh38 |
| NC_000018.9:g.19348555A>C , CM000680.1:g.19348555A>C | GRCh37 |
| NC_000018.8:g.17602553A>C | NCBI36 |
| NG_033272.2:g.68638A>C , LRG_759:g.68638A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.402-29A>C MANE Select | ENSP00000261537.6:n.402-29A>C | |
| ENST00000261537.6:c.402-29A>C | ENSP00000261537.6:n.402-29A>C | |
| ENST00000578646.5:n.340-29A>C | ||
| NM_020774.3:c.402-29A>C , LRG_759t1:c.402-29A>C | NP_065825.1:n.402-29A>C | |
| XR_935234.1:n.1193-29A>C | ||
| XR_935235.1:n.1193-29A>C | ||
| XM_017025874.1:c.402-29A>C | XP_016881363.1:n.402-29A>C | |
| XM_017025875.1:c.402-29A>C | XP_016881364.1:n.402-29A>C | |
| NM_020774.4:c.402-29A>C MANE Select | NP_065825.1:n.402-29A>C |