dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238147187G>C , CM000664.2:g.238147187G>C | GRCh38 |
| NC_000002.11:g.239055828G>C , CM000664.1:g.239055828G>C | GRCh37 |
| NC_000002.10:g.238720567G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409223.2:c.1151-647G>C MANE Select | ENSP00000386389.1:n.1151-647G>C | |
| ENST00000409223.1:c.1151-647G>C | ENSP00000386389.1:n.1151-647G>C | |
| NM_198582.3:c.1151-647G>C | NP_940984.3:n.1151-647G>C | |
| NM_198582.4:c.1151-647G>C MANE Select | NP_940984.3:n.1151-647G>C |