dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63126316C>G , CM000680.2:g.63126316C>G | GRCh38 |
| NC_000018.9:g.60793549C>G , CM000680.1:g.60793549C>G | GRCh37 |
| NC_000018.8:g.58944529C>G | NCBI36 |
| NG_009361.1:g.198065G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.*2309G>C MANE Select | ENSP00000329623.3:n.*2309G>C | |
| ENST00000677635.1:n.2593G>C | ||
| ENST00000678134.1:c.3233G>C | ENSP00000503628.1:n.3233G>C | |
| ENST00000678301.1:c.*2309G>C | ENSP00000504546.1:n.*2309G>C | |
| ENST00000678349.1:c.3581G>C | ENSP00000504190.1:n.3581G>C | |
| ENST00000398117.1:c.*2309G>C | ENSP00000381185.1:n.*2309G>C | |
| NM_000633.2:c.*2309G>C | NP_000624.2:n.*2309G>C | |
| NM_000633.3:c.*2309G>C MANE Select | NP_000624.2:n.*2309G>C |