Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.163324622C>G , CM000666.2:g.163324622C>G | GRCh38 |
| NC_000004.11:g.164245774C>G , CM000666.1:g.164245774C>G | GRCh37 |
| NC_000004.10:g.164465224C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296533.3:c.*681G>C MANE Select | ENSP00000354652.2:n.*681G>C | |
| ENST00000296533.2:c.*681G>C | ENSP00000354652.2:n.*681G>C | |
| NM_000909.5:c.*681G>C | NP_000900.1:n.*681G>C | |
| XM_005263031.2:c.*681G>C | XP_005263088.1:n.*681G>C | |
| XM_011532010.1:c.*681G>C | XP_011530312.1:n.*681G>C | |
| XM_005263031.4:c.*681G>C | XP_005263088.1:n.*681G>C | |
| XM_011532010.3:c.*681G>C | XP_011530312.1:n.*681G>C | |
| NM_000909.6:c.*681G>C MANE Select | NP_000900.1:n.*681G>C |