Linked Data
dbSNP Id:
rs368443817
ExAC:
4:964812 G / A
gnomAD v2:
4-964812-G-A
gnomAD v3:
4-971024-G-A
gnomAD v4:
4-971024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.971024G>A , CM000666.2:g.971024G>A | GRCh38 |
| NC_000004.11:g.964812G>A , CM000666.1:g.964812G>A | GRCh37 |
| NC_000004.10:g.954812G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273814.8:c.320C>T MANE Select | ENSP00000273814.3:p.Pro107Leu | |
| ENST00000273814.7:c.320C>T | ENSP00000273814.3:p.Pro107Leu | |
| ENST00000509465.5:c.160C>T | ||
| ENST00000510286.1:c.95C>T | ENSP00000427268.1:p.Pro32Leu | |
| NM_001347.3:c.320C>T | NP_001338.2:p.Pro107Leu | |
| XM_011513411.1:c.320C>T | XP_011511713.1:p.Pro107Leu | |
| XM_011513412.1:c.320C>T | XP_011511714.1:p.Pro107Leu | |
| XM_011513413.1:c.320C>T | XP_011511715.1:p.Pro107Leu | |
| XM_011513414.1:c.320C>T | XP_011511716.1:p.Pro107Leu | |
| XM_011513415.1:c.320C>T | XP_011511717.1:p.Pro107Leu | |
| XM_011513414.2:c.320C>T | XP_011511716.1:p.Pro107Leu | |
| XM_017007814.1:c.320C>T | XP_016863303.1:p.Pro107Leu | |
| XM_017007815.1:c.320C>T | XP_016863304.1:p.Pro107Leu | |
| XR_002959715.1:n.383C>T | ||
| NM_001347.4:c.320C>T MANE Select | NP_001338.2:p.Pro107Leu |