Linked Data
ClinVar Variation Id:
1142818
ClinVar RCV Id:
RCV001480738
dbSNP Id:
rs2115132127
MyVariant Identifiers:
chr6:g.137147568T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826430T>C , CM000668.2:g.136826430T>C | GRCh38 |
| NC_000006.11:g.137147568T>C , CM000668.1:g.137147568T>C | GRCh37 |
| NC_000006.10:g.137189261T>C | NCBI36 |
| NG_008462.1:g.8851T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.300T>C MANE Select | ENSP00000315680.3:p.Ala100= | |
| ENST00000541292.6:c.300T>C | ENSP00000441004.1:p.Ala100= | |
| ENST00000678002.1:c.175T>C | ||
| ENST00000678557.1:c.186T>C | ENSP00000502962.1:p.Ala62= | |
| ENST00000678593.1:c.305T>C | ENSP00000503841.1:n.305T>C | |
| ENST00000679286.1:c.180T>C | ENSP00000503168.1:p.Ala60= | |
| ENST00000318471.4:c.300T>C | ENSP00000315680.3:p.Ala100= | |
| ENST00000367756.8:c.300T>C | ENSP00000356730.4:p.Ala100= | |
| ENST00000541292.5:c.300T>C | ENSP00000441004.1:p.Ala100= | |
| NM_000288.3:c.300T>C | NP_000279.1:p.Ala100= | |
| XM_005267019.3:c.186T>C | XP_005267076.1:p.Ala62= | |
| XM_006715502.1:c.300T>C | XP_006715565.1:p.Ala100= | |
| XM_011535900.1:c.300T>C | XP_011534202.1:p.Ala100= | |
| XM_005267019.4:c.186T>C | XP_005267076.1:p.Ala62= | |
| XM_006715502.2:c.300T>C | XP_006715565.1:p.Ala100= | |
| XM_017010934.2:c.300T>C | XP_016866423.1:p.Ala100= | |
| NM_000288.4:c.300T>C MANE Select | NP_000279.1:p.Ala100= |