Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5225733G>T;5225738A>G] , CM000673.2:g.[5225733G>T;5225738A>G] | GRCh38 |
| NC_000011.9:g.[5246963G>T;5246968A>G] , CM000673.1:g.[5246963G>T;5246968A>G] | GRCh37 |
| NC_000011.8:g.[5203539G>T;5203544A>G] | NCBI36 |
| NG_000007.3:g.[71878T>C;71883C>A] | |
| NG_059281.1:g.[6334T>C;6339C>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[316-12T>C;316-7C>A] | ENSP00000494175.1:n.[316-12T>C;316-7C>A] | |
| ENST00000335295.4:c.[316-12T>C;316-7C>A] MANE Select | ENSP00000333994.3:n.[316-12T>C;316-7C>A] | |
| ENST00000475226.1:n.[248-12T>C;248-7C>A] | ||
| ENST00000633227.1:c.[*132-12T>C;*132-7C>A] | ENSP00000488004.1:n.[*132-12T>C;*132-7C>A] | |
| NM_000518.4:c.[316-12T>C;316-7C>A] | NP_000509.1:n.[316-12T>C;316-7C>A] | |
| NM_000518.5:c.[316-12T>C;316-7C>A] MANE Select | NP_000509.1:n.[316-12T>C;316-7C>A] |