Linked Data
ClinVar Variation Id:
1180601
ClinVar RCV Id:
RCV001814330
dbSNP Id:
rs2115131765
gnomAD v4:
6-136826339-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136826339T>G , CM000668.2:g.136826339T>G | GRCh38 |
| NC_000006.11:g.137147477T>G , CM000668.1:g.137147477T>G | GRCh37 |
| NC_000006.10:g.137189170T>G | NCBI36 |
| NG_008462.1:g.8760T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.209T>G MANE Select | ENSP00000315680.3:p.Leu70Trp | |
| ENST00000541292.6:c.209T>G | ENSP00000441004.1:p.Leu70Trp | |
| ENST00000678002.1:c.84T>G | ||
| ENST00000678557.1:c.95T>G | ENSP00000502962.1:p.Leu32Trp | |
| ENST00000678593.1:c.214T>G | ENSP00000503841.1:p.Cys72Gly | |
| ENST00000679286.1:c.89T>G | ENSP00000503168.1:p.Leu30Trp | |
| ENST00000318471.4:c.209T>G | ENSP00000315680.3:p.Leu70Trp | |
| ENST00000367756.8:c.209T>G | ENSP00000356730.4:p.Leu70Trp | |
| ENST00000541292.5:c.209T>G | ENSP00000441004.1:p.Leu70Trp | |
| NM_000288.3:c.209T>G | NP_000279.1:p.Leu70Trp | |
| XM_005267019.3:c.95T>G | XP_005267076.1:p.Leu32Trp | |
| XM_006715502.1:c.209T>G | XP_006715565.1:p.Leu70Trp | |
| XM_011535900.1:c.209T>G | XP_011534202.1:p.Leu70Trp | |
| XM_005267019.4:c.95T>G | XP_005267076.1:p.Leu32Trp | |
| XM_006715502.2:c.209T>G | XP_006715565.1:p.Leu70Trp | |
| XM_017010934.2:c.209T>G | XP_016866423.1:p.Leu70Trp | |
| NM_000288.4:c.209T>G MANE Select | NP_000279.1:p.Leu70Trp |