Linked Data
dbSNP Id:
rs749588703
ExAC:
1:11333830 C / T
gnomAD v2:
1-11333830-C-T
gnomAD v3:
1-11273773-C-T
gnomAD v4:
1-11273773-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273773C>T , CM000663.2:g.11273773C>T | GRCh38 |
| NC_000001.10:g.11333830C>T , CM000663.1:g.11333830C>T | GRCh37 |
| NC_000001.9:g.11256417C>T | NCBI36 |
| NG_009443.1:g.5576C>T | |
| NG_009443.2:g.5576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.242C>T MANE Select | ENSP00000366006.5:p.Pro81Leu | |
| ENST00000376804.2:c.242C>T | ENSP00000366000.1:p.Pro81Leu | |
| ENST00000376810.5:c.242C>T | ENSP00000366006.5:p.Pro81Leu | |
| NM_013319.2:c.242C>T | NP_037451.1:p.Pro81Leu | |
| XM_006710590.2:c.242C>T | XP_006710653.1:p.Pro81Leu | |
| XM_011541304.1:c.242C>T | XP_011539606.1:p.Pro81Leu | |
| XR_946616.1:n.576C>T | ||
| NM_001330349.1:c.242C>T | NP_001317278.1:p.Pro81Leu | |
| NM_001330350.1:c.242C>T | NP_001317279.1:p.Pro81Leu | |
| XR_946616.3:n.576C>T | ||
| NM_001330349.2:c.242C>T | NP_001317278.1:p.Pro81Leu | |
| NM_001330350.2:c.242C>T | NP_001317279.1:p.Pro81Leu | |
| NM_013319.3:c.242C>T MANE Select | NP_037451.1:p.Pro81Leu |