Linked Data
dbSNP Id:
rs1442248246
gnomAD v2:
8-144657169-G-A
gnomAD v3:
8-143574999-G-A
gnomAD v4:
8-143574999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143574999G>A , CM000670.2:g.143574999G>A | GRCh38 |
| NC_000008.10:g.144657169G>A , CM000670.1:g.144657169G>A | GRCh37 |
| NC_000008.9:g.144728312G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1541C>T MANE Select | ENSP00000401508.2:p.Pro514Leu | |
| ENST00000340490.7:c.1541C>T | ENSP00000341136.3:p.Pro514Leu | |
| ENST00000426292.7:c.1502C>T | ENSP00000390949.3:p.Pro501Leu | |
| ENST00000435154.7:c.*165C>T | ENSP00000405670.3:n.*165C>T | |
| ENST00000449291.6:c.1541C>T | ENSP00000401508.2:p.Pro514Leu | |
| ENST00000460623.5:c.480C>T | ||
| ENST00000464332.5:n.1085C>T | ||
| ENST00000498076.5:n.320C>T | ||
| ENST00000529179.1:n.325C>T | ||
| NM_001286829.1:c.1502C>T | NP_001273758.1:p.Pro501Leu | |
| NM_145201.5:c.1541C>T | NP_660202.3:p.Pro514Leu | |
| XM_011517377.1:c.1292-99C>T | XP_011515679.1:n.1292-99C>T | |
| NM_001363145.1:c.1460C>T | NP_001350074.1:p.Pro487Leu | |
| NM_001363146.1:c.857C>T | NP_001350075.1:p.Pro286Leu | |
| XM_017013975.2:c.1760C>T | XP_016869464.1:p.Pro587Leu | |
| XM_017013976.2:c.1760C>T | XP_016869465.1:p.Pro587Leu | |
| XM_017013977.2:c.1460C>T | XP_016869466.1:p.Pro487Leu | |
| XM_017013978.2:c.1511-99C>T | XP_016869467.1:n.1511-99C>T | |
| XM_017013979.2:c.857C>T | XP_016869468.1:p.Pro286Leu | |
| XM_024447332.1:c.929-99C>T | XP_024303100.1:n.929-99C>T | |
| XM_024447333.1:c.776C>T | XP_024303101.1:p.Pro259Leu | |
| NM_145201.6:c.1541C>T MANE Select | NP_660202.3:p.Pro514Leu | |
| NM_001286829.2:c.1502C>T | NP_001273758.1:p.Pro501Leu |