Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241851760C>G , CM000664.2:g.241851760C>G | GRCh38 |
| NC_000002.11:g.242793912C>G , CM000664.1:g.242793912C>G | GRCh37 |
| NC_000002.10:g.242442585C>G | NCBI36 |
| NG_012110.1:g.12147G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334409.10:c.627+189G>C MANE Select | ENSP00000335062.5:n.627+189G>C | |
| ENST00000334409.9:c.627+189G>C | ENSP00000335062.5:n.627+189G>C | |
| ENST00000343705.3:c.301+189G>C | ||
| ENST00000418831.1:c.*190+189G>C | ENSP00000390296.1:n.*190+189G>C | |
| NM_005018.2:c.627+189G>C | NP_005009.2:n.627+189G>C | |
| XM_017004293.1:c.627+189G>C | XP_016859782.1:n.627+189G>C | |
| NM_005018.3:c.627+189G>C MANE Select | NP_005009.2:n.627+189G>C |