Linked Data
ClinVar Variation Id:
2050756
ClinVar RCV Id:
RCV002904604
MyVariant Identifiers:
chr4:g.47408910T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406893T>C , CM000666.2:g.47406893T>C | GRCh38 |
| NC_000004.11:g.47408910T>C , CM000666.1:g.47408910T>C | GRCh37 |
| NC_000004.10:g.47103667T>C | NCBI36 |
| NG_051831.1:g.380616T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1047T>C MANE Select | ENSP00000295454.3:p.Asn349= | |
| ENST00000295454.7:c.1047T>C | ENSP00000295454.3:p.Asn349= | |
| NM_000812.3:c.1047T>C | NP_000803.2:p.Asn349= | |
| XM_011513678.1:c.1026T>C | XP_011511980.1:p.Asn342= | |
| XM_017007985.1:c.396T>C | XP_016863474.1:p.Asn132= | |
| XM_024453976.1:c.948T>C | XP_024309744.1:p.Asn316= | |
| XM_024453977.1:c.948T>C | XP_024309745.1:p.Asn316= | |
| XM_024453978.1:c.948T>C | XP_024309746.1:p.Asn316= | |
| NM_000812.4:c.1047T>C MANE Select | NP_000803.2:p.Asn349= |