dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241851697G>C , CM000664.2:g.241851697G>C | GRCh38 |
| NC_000002.11:g.242793849G>C , CM000664.1:g.242793849G>C | GRCh37 |
| NC_000002.10:g.242442522G>C | NCBI36 |
| NG_012110.1:g.12210C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334409.10:c.627+252C>G MANE Select | ENSP00000335062.5:n.627+252C>G | |
| ENST00000334409.9:c.627+252C>G | ENSP00000335062.5:n.627+252C>G | |
| ENST00000343705.3:c.301+252C>G | ||
| ENST00000418831.1:c.*190+252C>G | ENSP00000390296.1:n.*190+252C>G | |
| NM_005018.2:c.627+252C>G | NP_005009.2:n.627+252C>G | |
| XM_017004293.1:c.627+252C>G | XP_016859782.1:n.627+252C>G | |
| NM_005018.3:c.627+252C>G MANE Select | NP_005009.2:n.627+252C>G |