Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69193464T>C , CM000664.2:g.69193464T>C | GRCh38 |
| NC_000002.11:g.69420596T>C , CM000664.1:g.69420596T>C | GRCh37 |
| NC_000002.10:g.69274100T>C | NCBI36 |
| NG_012649.1:g.185321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303714.9:c.1434+49T>C MANE Select | ENSP00000301945.4:n.1434+49T>C | |
| ENST00000303714.8:c.1434+49T>C | ENSP00000301945.4:n.1434+49T>C | |
| NM_032208.2:c.1434+49T>C | NP_115584.1:n.1434+49T>C | |
| XM_011533124.1:c.1434+49T>C | XP_011531426.1:n.1434+49T>C | |
| XR_939725.1:n.1581+49T>C | ||
| NM_032208.3:c.1434+49T>C MANE Select | NP_115584.1:n.1434+49T>C |