Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92436398T>C , CM000675.2:g.92436398T>C | GRCh38 |
| NC_000013.10:g.93088651T>C , CM000675.1:g.93088651T>C | GRCh37 |
| NC_000013.9:g.91886652T>C | NCBI36 |
| NG_009370.1:g.1042717T>C | |
| NG_009370.2:g.1042718T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004466.6:c.1561+291409T>C MANE Select | NP_004457.1:n.1561+291409T>C |
| ENST00000377067.9:c.1561+291409T>C MANE Select | ENSP00000366267.3:n.1561+291409T>C |
| NM_004466.5:c.1561+291409T>C | NP_004457.1:n.1561+291409T>C |
| ENST00000377067.8:c.1561+291409T>C | ENSP00000366267.3:n.1561+291409T>C |
| XM_017020435.2:c.1561+291409T>C | XP_016875924.1:n.1561+291409T>C |