Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737396T>C , CM000678.2:g.30737396T>C | GRCh38 |
| NC_000016.9:g.30748717T>C , CM000678.1:g.30748717T>C | GRCh37 |
| NC_000016.8:g.30656218T>C | NCBI36 |
| NG_032135.1:g.43256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.7356T>C | ENSP00000405186.3:p.Ala2452= | |
| ENST00000704023.1:c.1593+43T>C | ||
| ENST00000706321.1:c.7356T>C | ENSP00000516346.1:p.Ala2452= | |
| ENST00000262518.9:c.7356T>C MANE Select | ENSP00000262518.4:p.Ala2452= | |
| ENST00000262518.8:c.7356T>C | ENSP00000262518.4:p.Ala2452= | |
| ENST00000380361.7:c.6825T>C | ENSP00000369719.3:p.Ala2275= | |
| ENST00000395059.6:c.6579T>C | ENSP00000378499.3:p.Ala2193= | |
| NM_006662.2:c.7356T>C | NP_006653.2:p.Ala2452= | |
| NM_006662.3:c.7356T>C MANE Select | NP_006653.2:p.Ala2452= |