Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21567673C= , CM000669.2:g.21567673C= | GRCh38 |
| NC_000007.13:g.21607291C= , CM000669.1:g.21607291C= | GRCh37 |
| NC_000007.12:g.21573816C= | NCBI36 |
| NG_012886.2:g.29459C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.1195-2396C= MANE Select | ENSP00000475939.1:n.1195-2396C= | |
| ENST00000328843.10:c.1195-2396C= | ENSP00000330671.7:n.1195-2396C= | |
| ENST00000409508.7:c.1195-2396C= | ENSP00000475939.1:n.1195-2396C= | |
| ENST00000496218.1:n.81-2396C= | ||
| ENST00000620169.4:c.1195-2396C= | ENSP00000481693.1:n.1195-2396C= | |
| NM_001277115.1:c.1195-2396C= | NP_001264044.1:n.1195-2396C= | |
| XR_927090.1:n.563+5653G= | ||
| XR_001745114.1:n.2793+5653G= | ||
| NM_001277115.2:c.1195-2396C= MANE Select | NP_001264044.1:n.1195-2396C= |