Linked Data
ClinVar Variation Id:
9775
ClinVar RCV Id:
RCV000010429
dbSNP Id:
rs199422236
PubMed:
PMID:15586325
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53199140G>A , CM000685.2:g.53199140G>A | GRCh38 |
| NC_000023.10:g.53228322G>A , CM000685.1:g.53228322G>A | GRCh37 |
| NC_000023.9:g.53245047G>A | NCBI36 |
| NG_008085.1:g.31283C>T | |
| NG_008085.2:g.31283C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685423.1:c.2080C>T | ENSP00000508806.1:p.Arg694Ter | |
| ENST00000685641.1:c.2080C>T | ENSP00000509818.1:p.Arg694Ter | |
| ENST00000687695.1:c.2077C>T | ENSP00000508631.1:p.Arg693Ter | |
| ENST00000688699.1:c.2080C>T | ENSP00000510430.1:p.Arg694Ter | |
| ENST00000691505.1:c.2080C>T | ENSP00000510354.1:p.Arg694Ter | |
| ENST00000693277.1:c.1585C>T | ENSP00000510522.1:p.Arg529Ter | |
| ENST00000375401.8:c.2080C>T MANE Select | ENSP00000364550.4:p.Arg694Ter | |
| ENST00000375379.7:c.2080C>T | ENSP00000364528.3:p.Arg694Ter | |
| ENST00000375383.7:c.1957C>T | ENSP00000364532.3:p.Arg653Ter | |
| ENST00000375401.7:c.2080C>T | ENSP00000364550.3:p.Arg694Ter | |
| ENST00000404049.7:c.2077C>T | ENSP00000385394.3:p.Arg693Ter | |
| ENST00000452825.7:c.1879C>T | ENSP00000445176.1:p.Arg627Ter | |
| ENST00000497100.5:n.841C>T | ||
| NM_001146702.1:c.1879C>T | NP_001140174.1:p.Arg627Ter | |
| NM_001282622.1:c.2077C>T | NP_001269551.1:p.Arg693Ter | |
| NM_004187.3:c.2080C>T | NP_004178.2:p.Arg694Ter | |
| XM_005262035.3:c.2080C>T | XP_005262092.1:p.Arg694Ter | |
| XM_006724609.2:c.2080C>T | XP_006724672.1:p.Arg694Ter | |
| XM_011530824.1:c.2080C>T | XP_011529126.1:p.Arg694Ter | |
| XM_011530825.1:c.1957C>T | XP_011529127.1:p.Arg653Ter | |
| XM_011530826.1:c.1957C>T | XP_011529128.1:p.Arg653Ter | |
| XM_011530827.1:c.2080C>T | XP_011529129.1:p.Arg694Ter | |
| XM_011530828.1:c.2080C>T | XP_011529130.1:p.Arg694Ter | |
| XM_011530829.1:c.1585C>T | XP_011529131.1:p.Arg529Ter | |
| XM_011530830.1:c.1585C>T | XP_011529132.1:p.Arg529Ter | |
| XM_011530831.1:c.1096C>T | XP_011529133.1:p.Arg366Ter | |
| XR_938369.1:n.2426C>T | ||
| XR_938370.1:n.2426C>T | ||
| XR_938371.1:n.2426C>T | ||
| XR_938372.1:n.2426C>T | ||
| XR_938373.1:n.2426C>T | ||
| NM_001353978.1:c.2080C>T | NP_001340907.1:p.Arg694Ter | |
| NM_001353979.1:c.2077C>T | NP_001340908.1:p.Arg693Ter | |
| NM_001353981.1:c.2080C>T | NP_001340910.1:p.Arg694Ter | |
| NM_001353982.1:c.2077C>T | NP_001340911.1:p.Arg693Ter | |
| NM_001353984.1:c.2080C>T | NP_001340913.1:p.Arg694Ter | |
| NR_148672.1:n.2613C>T | ||
| NR_148673.1:n.2610C>T | ||
| NR_148674.1:n.2490C>T | ||
| XM_011530824.3:c.2080C>T | XP_011529126.1:p.Arg694Ter | |
| XM_011530825.3:c.1957C>T | XP_011529127.1:p.Arg653Ter | |
| XM_011530826.3:c.1957C>T | XP_011529128.1:p.Arg653Ter | |
| XM_011530827.3:c.2080C>T | XP_011529129.1:p.Arg694Ter | |
| XM_011530828.2:c.2080C>T | XP_011529130.1:p.Arg694Ter | |
| XM_011530829.2:c.1585C>T | XP_011529131.1:p.Arg529Ter | |
| XM_011530830.2:c.1585C>T | XP_011529132.1:p.Arg529Ter | |
| XM_011530831.2:c.1096C>T | XP_011529133.1:p.Arg366Ter | |
| XM_024452466.1:c.2077C>T | XP_024308234.1:p.Arg693Ter | |
| XR_001755735.2:n.2406C>T | ||
| XR_001755736.2:n.2406C>T | ||
| XR_001755737.2:n.2406C>T | ||
| XR_938370.3:n.2406C>T | ||
| NM_001146702.2:c.1879C>T | NP_001140174.1:p.Arg627Ter | |
| NM_001282622.3:c.2077C>T | NP_001269551.1:p.Arg693Ter | |
| NM_001353978.3:c.2080C>T | NP_001340907.1:p.Arg694Ter | |
| NM_001353979.2:c.2077C>T | NP_001340908.1:p.Arg693Ter | |
| NM_001353981.2:c.2080C>T | NP_001340910.1:p.Arg694Ter | |
| NM_001353982.2:c.2077C>T | NP_001340911.1:p.Arg693Ter | |
| NM_004187.5:c.2080C>T MANE Select | NP_004178.2:p.Arg694Ter | |
| NR_148672.2:n.2398C>T | ||
| NR_148673.2:n.2395C>T | ||
| NR_148674.2:n.2275C>T | ||
| NM_001353984.2:c.2080C>T | NP_001340913.1:p.Arg694Ter |