Linked Data
ClinVar Variation Id:
3017090
ClinVar RCV Id:
RCV003871209
dbSNP Id:
rs1774190957
MyVariant Identifiers:
chr6:g.137147476T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826338T>C , CM000668.2:g.136826338T>C | GRCh38 |
| NC_000006.11:g.137147476T>C , CM000668.1:g.137147476T>C | GRCh37 |
| NC_000006.10:g.137189169T>C | NCBI36 |
| NG_008462.1:g.8759T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.208T>C MANE Select | ENSP00000315680.3:p.Leu70= | |
| ENST00000541292.6:c.208T>C | ENSP00000441004.1:p.Leu70= | |
| ENST00000678002.1:c.83T>C | ||
| ENST00000678557.1:c.94T>C | ENSP00000502962.1:p.Leu32= | |
| ENST00000678593.1:c.213T>C | ENSP00000503841.1:p.Val71= | |
| ENST00000679286.1:c.88T>C | ENSP00000503168.1:p.Leu30= | |
| ENST00000318471.4:c.208T>C | ENSP00000315680.3:p.Leu70= | |
| ENST00000367756.8:c.208T>C | ENSP00000356730.4:p.Leu70= | |
| ENST00000541292.5:c.208T>C | ENSP00000441004.1:p.Leu70= | |
| NM_000288.3:c.208T>C | NP_000279.1:p.Leu70= | |
| XM_005267019.3:c.94T>C | XP_005267076.1:p.Leu32= | |
| XM_006715502.1:c.208T>C | XP_006715565.1:p.Leu70= | |
| XM_011535900.1:c.208T>C | XP_011534202.1:p.Leu70= | |
| XM_005267019.4:c.94T>C | XP_005267076.1:p.Leu32= | |
| XM_006715502.2:c.208T>C | XP_006715565.1:p.Leu70= | |
| XM_017010934.2:c.208T>C | XP_016866423.1:p.Leu70= | |
| NM_000288.4:c.208T>C MANE Select | NP_000279.1:p.Leu70= |