Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715692T>C , CM000667.2:g.74715692T>C | GRCh38 |
| NC_000005.9:g.74011517T>C , CM000667.1:g.74011517T>C | GRCh37 |
| NC_000005.8:g.74047273T>C | NCBI36 |
| NG_009770.1:g.35549T>C | |
| NG_009770.2:g.80670T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1082+2T>C MANE Select | NP_000512.2:n.1082+2T>C |
| ENST00000261416.12:c.1082+2T>C MANE Select | ENSP00000261416.7:n.1082+2T>C |
| NM_000521.3:c.1082+2T>C | NP_000512.1:n.1082+2T>C |
| NM_001292004.1:c.407+2T>C | NP_001278933.1:n.407+2T>C |
| NM_001292004.2:c.407+2T>C | NP_001278933.1:n.407+2T>C |
| ENST00000261416.11:c.1082+2T>C | ENSP00000261416.7:n.1082+2T>C |
| ENST00000504459.5:n.279+2T>C | |
| ENST00000511181.5:c.407+2T>C | ENSP00000426285.1:n.407+2T>C |
| ENST00000511621.1:n.45+2T>C | |
| ENST00000513336.5:c.105+2T>C |