Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157543136A>G , CM000667.2:g.157543136A>G | GRCh38 |
| NC_000005.9:g.156970144A>G , CM000667.1:g.156970144A>G | GRCh37 |
| NC_000005.8:g.156902722A>G | NCBI36 |
| NG_046960.1:g.37688T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257527.9:c.252-5145T>C MANE Select | ENSP00000257527.5:n.252-5145T>C | |
| ENST00000257527.8:c.252-5145T>C | ENSP00000257527.4:n.252-5145T>C | |
| ENST00000517905.1:c.252-5145T>C | ENSP00000428654.1:n.252-5145T>C | |
| ENST00000517951.5:c.252-5145T>C | ENSP00000428376.1:n.252-5145T>C | |
| NM_033274.4:c.252-5145T>C | NP_150377.1:n.252-5145T>C | |
| XM_005266003.2:c.252-5145T>C | XP_005266060.1:n.252-5145T>C | |
| NM_033274.5:c.252-5145T>C MANE Select | NP_150377.1:n.252-5145T>C |