Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135798027A>G , CM000664.2:g.135798027A>G | GRCh38 |
| NC_000002.11:g.136555597A>G , CM000664.1:g.136555597A>G | GRCh37 |
| NC_000002.10:g.136272067A>G | NCBI36 |
| NG_008104.2:g.62143T>C , LRG_338:g.62143T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.4976+2T>C MANE Select | ENSP00000264162.2:n.4976+2T>C | |
| ENST00000264162.6:c.4976+2T>C | ENSP00000264162.2:n.4976+2T>C | |
| ENST00000452974.1:c.3069+2T>C | ENSP00000391231.1:n.3069+2T>C | |
| NM_002299.2:c.4976+2T>C , LRG_338t1:c.4976+2T>C | NP_002290.2:n.4976+2T>C | |
| NM_002299.3:c.4976+2T>C | NP_002290.2:n.4976+2T>C | |
| XM_017004088.2:c.4976+2T>C | XP_016859577.1:n.4976+2T>C | |
| NM_002299.4:c.4976+2T>C MANE Select | NP_002290.2:n.4976+2T>C |