Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135807044A>G , CM000664.2:g.135807044A>G | GRCh38 |
| NC_000002.11:g.136564614A>G , CM000664.1:g.136564614A>G | GRCh37 |
| NC_000002.10:g.136281084A>G | NCBI36 |
| NG_008104.2:g.53126T>C , LRG_338:g.53126T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4173+84T>C MANE Select | ENSP00000264162.2:n.4173+84T>C | |
| ENST00000264162.6:c.4173+84T>C | ENSP00000264162.2:n.4173+84T>C | |
| ENST00000452974.1:c.2469+84T>C | ENSP00000391231.1:n.2469+84T>C | |
| NM_002299.2:c.4173+84T>C , LRG_338t1:c.4173+84T>C | NP_002290.2:n.4173+84T>C | |
| NM_002299.3:c.4173+84T>C | NP_002290.2:n.4173+84T>C | |
| XM_017004088.2:c.4173+84T>C | XP_016859577.1:n.4173+84T>C | |
| NM_002299.4:c.4173+84T>C MANE Select | NP_002290.2:n.4173+84T>C |