dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186671926G>C , CM000663.2:g.186671926G>C | GRCh38 |
| NC_000001.10:g.186641058G>C , CM000663.1:g.186641058G>C | GRCh37 |
| NC_000001.9:g.184907681G>C | NCBI36 |
| NG_028206.2:g.13502C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*2427C>G MANE Select | ENSP00000356438.5:n.*2427C>G | |
| ENST00000680451.1:c.*2427C>G | ENSP00000506242.1:n.*2427C>G | |
| ENST00000681605.1:c.*3914C>G | ENSP00000504900.1:n.*3914C>G | |
| ENST00000367468.9:c.*2427C>G | ENSP00000356438.5:n.*2427C>G | |
| NM_000963.3:c.*2427C>G | NP_000954.1:n.*2427C>G | |
| NM_000963.4:c.*2427C>G MANE Select | NP_000954.1:n.*2427C>G |