dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47554621G>C , CM000668.2:g.47554621G>C | GRCh38 |
| NC_000006.11:g.47522357G>C , CM000668.1:g.47522357G>C | GRCh37 |
| NC_000006.10:g.47630316G>C | NCBI36 |
| NG_008878.1:g.81833G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.421-25G>C MANE Select | ENSP00000352264.5:n.421-25G>C | |
| NM_012120.2:c.421-25G>C | NP_036252.1:n.421-25G>C | |
| XM_005248976.1:c.421-25G>C | XP_005249033.1:n.421-25G>C | |
| XM_005248977.2:c.421-25G>C | XP_005249034.1:n.421-25G>C | |
| XM_011514449.1:c.274-25G>C | XP_011512751.1:n.274-25G>C | |
| XM_011514449.2:c.274-25G>C | XP_011512751.1:n.274-25G>C | |
| XM_017010641.1:c.421-25G>C | XP_016866130.1:n.421-25G>C | |
| NM_012120.3:c.421-25G>C MANE Select | NP_036252.1:n.421-25G>C |