Linked Data
ClinVar Variation Id:
337260
dbSNP Id:
rs61733105
ExAC:
2:85777856 G / T
gnomAD v2:
2-85777856-G-T
gnomAD v3:
2-85550733-G-T
gnomAD v4:
2-85550733-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85550733G>T , CM000664.2:g.85550733G>T | GRCh38 |
| NC_000002.11:g.85777856G>T , CM000664.1:g.85777856G>T | GRCh37 |
| NC_000002.10:g.85631367G>T | NCBI36 |
| NG_011811.2:g.15802C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.6384C>A | ||
| ENST00000482662.2:n.4791C>A | ||
| ENST00000685865.1:n.2944C>A | ||
| ENST00000687250.1:n.2437C>A | ||
| ENST00000687995.1:n.2258C>A | ||
| ENST00000688205.1:c.*1499C>A | ENSP00000509673.1:n.*1499C>A | |
| ENST00000688788.1:n.2145C>A | ||
| ENST00000689276.1:c.1837C>A | ENSP00000510012.1:p.Pro613Thr | |
| ENST00000689576.1:c.*525C>A | ENSP00000508712.1:n.*525C>A | |
| ENST00000690108.1:c.*1562C>A | ENSP00000510617.1:n.*1562C>A | |
| ENST00000690468.1:c.*458C>A | ENSP00000509078.1:n.*458C>A | |
| ENST00000690595.1:c.1231C>A | ENSP00000508979.1:p.Pro411Thr | |
| ENST00000691348.1:c.*458C>A | ENSP00000509369.1:n.*458C>A | |
| ENST00000691410.1:c.*1483C>A | ENSP00000508479.1:n.*1483C>A | |
| ENST00000693287.1:c.1222C>A | ENSP00000510264.1:p.Pro408Thr | |
| ENST00000693354.1:n.590C>A | ||
| ENST00000693681.1:c.1219C>A | ENSP00000510789.1:p.Pro407Thr | |
| ENST00000233838.9:c.1906C>A MANE Select | ENSP00000233838.3:p.Pro636Thr | |
| ENST00000233838.8:c.1906C>A | ENSP00000233838.3:p.Pro636Thr | |
| ENST00000430215.7:c.1735C>A | ENSP00000408045.3:p.Pro579Thr | |
| ENST00000465637.5:n.179-2729C>A | ||
| NM_000821.5:c.1906C>A | NP_000812.2:p.Pro636Thr | |
| NM_000821.6:c.1906C>A | NP_000812.2:p.Pro636Thr | |
| NM_001142269.2:c.1735C>A | NP_001135741.1:p.Pro579Thr | |
| NM_001142269.3:c.1735C>A | NP_001135741.1:p.Pro579Thr | |
| XM_005264259.3:c.1900C>A | XP_005264316.1:p.Pro634Thr | |
| XM_011532764.1:c.1084C>A | XP_011531066.1:p.Pro362Thr | |
| XM_011532765.1:c.1084C>A | XP_011531067.1:p.Pro362Thr | |
| XM_005264259.5:c.1900C>A | XP_005264316.1:p.Pro634Thr | |
| XM_011532764.3:c.1084C>A | XP_011531066.1:p.Pro362Thr | |
| XM_011532765.3:c.1084C>A | XP_011531067.1:p.Pro362Thr | |
| XM_017003803.2:c.1729C>A | XP_016859292.1:p.Pro577Thr | |
| XR_001738703.2:n.1819C>A | ||
| NM_000821.7:c.1906C>A MANE Select | NP_000812.2:p.Pro636Thr | |
| NM_001142269.4:c.1735C>A | NP_001135741.1:p.Pro579Thr |