Linked Data
dbSNP Id:
rs1233845979
gnomAD v2:
4-47408936-A-T
gnomAD v3:
4-47406919-A-T
gnomAD v4:
4-47406919-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406919A>T , CM000666.2:g.47406919A>T | GRCh38 |
| NC_000004.11:g.47408936A>T , CM000666.1:g.47408936A>T | GRCh37 |
| NC_000004.10:g.47103693A>T | NCBI36 |
| NG_051831.1:g.380642A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1073A>T MANE Select | ENSP00000295454.3:p.Lys358Ile | |
| ENST00000295454.7:c.1073A>T | ENSP00000295454.3:p.Lys358Ile | |
| NM_000812.3:c.1073A>T | NP_000803.2:p.Lys358Ile | |
| XM_011513678.1:c.1052A>T | XP_011511980.1:p.Lys351Ile | |
| XM_017007985.1:c.422A>T | XP_016863474.1:p.Lys141Ile | |
| XM_024453976.1:c.974A>T | XP_024309744.1:p.Lys325Ile | |
| XM_024453977.1:c.974A>T | XP_024309745.1:p.Lys325Ile | |
| XM_024453978.1:c.974A>T | XP_024309746.1:p.Lys325Ile | |
| NM_000812.4:c.1073A>T MANE Select | NP_000803.2:p.Lys358Ile |