Linked Data
dbSNP Id:
rs1419818068
gnomAD v2:
14-34269777-C-T
gnomAD v3:
14-33800571-C-T
gnomAD v4:
14-33800571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800571C>T , CM000676.2:g.33800571C>T | GRCh38 |
| NC_000014.8:g.34269777C>T , CM000676.1:g.34269777C>T | GRCh37 |
| NC_000014.7:g.33339528C>T | NCBI36 |
| NG_013036.1:g.866319C>T | |
| NG_013036.2:g.866319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2264C>T MANE Select | ENSP00000348460.4:p.Pro755Leu | |
| ENST00000551634.6:c.2273C>T | ENSP00000448373.2:p.Pro758Leu | |
| ENST00000680362.1:c.2164C>T | ||
| ENST00000681323.1:c.793+2990C>T | ||
| ENST00000346562.6:c.2168C>T | ENSP00000319610.5:p.Pro723Leu | |
| ENST00000356141.8:c.2264C>T | ENSP00000348460.4:p.Pro755Leu | |
| ENST00000357798.9:c.2225C>T | ENSP00000350446.5:p.Pro742Leu | |
| ENST00000548645.5:c.2174C>T | ENSP00000448916.1:p.Pro725Leu | |
| ENST00000551492.5:c.2279C>T | ENSP00000450392.1:p.Pro760Leu | |
| ENST00000551634.5:c.2186C>T | ENSP00000448373.1:p.Pro729Leu | |
| NM_001164749.1:c.2264C>T | NP_001158221.1:p.Pro755Leu | |
| NM_001165893.1:c.2174C>T | NP_001159365.1:p.Pro725Leu | |
| NM_022123.2:c.2168C>T | NP_071406.1:p.Pro723Leu | |
| NM_173159.2:c.2225C>T | NP_775182.1:p.Pro742Leu | |
| XM_005267991.2:c.2285C>T | XP_005268048.1:p.Pro762Leu | |
| XM_005267992.2:c.2279C>T | XP_005268049.1:p.Pro760Leu | |
| XM_005267993.2:c.2225C>T | XP_005268050.1:p.Pro742Leu | |
| XM_011537067.1:c.2315C>T | XP_011535369.1:p.Pro772Leu | |
| XM_011537068.1:c.2306C>T | XP_011535370.1:p.Pro769Leu | |
| XM_011537069.1:c.2276C>T | XP_011535371.1:p.Pro759Leu | |
| XM_011537070.1:c.2219C>T | XP_011535372.1:p.Pro740Leu | |
| XM_011537071.1:c.2186C>T | XP_011535373.1:p.Pro729Leu | |
| XM_011537072.1:c.2165C>T | XP_011535374.1:p.Pro722Leu | |
| XM_011537073.1:c.1958C>T | XP_011535375.1:p.Pro653Leu | |
| XM_011537074.1:c.1958C>T | XP_011535376.1:p.Pro653Leu | |
| XM_005267991.3:c.2372C>T | XP_005268048.2:p.Pro791Leu | |
| XM_005267992.3:c.2366C>T | XP_005268049.2:p.Pro789Leu | |
| XM_011537067.2:c.2315C>T | XP_011535369.1:p.Pro772Leu | |
| XM_011537069.2:c.2363C>T | XP_011535371.2:p.Pro788Leu | |
| XM_011537070.2:c.2219C>T | XP_011535372.1:p.Pro740Leu | |
| XM_011537071.2:c.2273C>T | XP_011535373.2:p.Pro758Leu | |
| XM_011537072.2:c.2165C>T | XP_011535374.1:p.Pro722Leu | |
| XM_017021582.1:c.2423C>T | XP_016877071.1:p.Pro808Leu | |
| XM_017021583.1:c.2414C>T | XP_016877072.1:p.Pro805Leu | |
| XM_017021584.1:c.2333C>T | XP_016877073.1:p.Pro778Leu | |
| XM_017021585.1:c.2282C>T | XP_016877074.1:p.Pro761Leu | |
| XM_017021586.1:c.1958C>T | XP_016877075.1:p.Pro653Leu | |
| XM_017021587.1:c.1958C>T | XP_016877076.1:p.Pro653Leu | |
| XM_017021588.1:c.1958C>T | XP_016877077.1:p.Pro653Leu | |
| NM_001164749.2:c.2264C>T MANE Select | NP_001158221.1:p.Pro755Leu | |
| NM_001165893.2:c.2174C>T | NP_001159365.1:p.Pro725Leu | |
| NM_022123.3:c.2168C>T | NP_071406.1:p.Pro723Leu | |
| NM_173159.3:c.2225C>T | NP_775182.1:p.Pro742Leu | |
| NM_001394988.1:c.2219C>T | NP_001381917.1:p.Pro740Leu | |
| NM_001394989.1:c.2165C>T | NP_001381918.1:p.Pro722Leu |