Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406704G>C , CM000666.2:g.47406704G>C | GRCh38 |
| NC_000004.11:g.47408721G>C , CM000666.1:g.47408721G>C | GRCh37 |
| NC_000004.10:g.47103478G>C | NCBI36 |
| NG_051831.1:g.380427G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.858G>C MANE Select | ENSP00000295454.3:p.Met286Ile | |
| ENST00000295454.7:c.858G>C | ENSP00000295454.3:p.Met286Ile | |
| NM_000812.3:c.858G>C | NP_000803.2:p.Met286Ile | |
| XM_011513678.1:c.837G>C | XP_011511980.1:p.Met279Ile | |
| XM_017007985.1:c.207G>C | XP_016863474.1:p.Met69Ile | |
| XM_024453976.1:c.759G>C | XP_024309744.1:p.Met253Ile | |
| XM_024453977.1:c.759G>C | XP_024309745.1:p.Met253Ile | |
| XM_024453978.1:c.759G>C | XP_024309746.1:p.Met253Ile | |
| NM_000812.4:c.858G>C MANE Select | NP_000803.2:p.Met286Ile |