Linked Data
ClinVar Variation Id:
11108
ClinVar RCV Id:
RCV000011857
dbSNP Id:
rs104894937
PubMed:
PMID:11238270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154413549T>C , CM000685.2:g.154413549T>C | GRCh38 |
| NC_000023.10:g.153641886T>C , CM000685.1:g.153641886T>C | GRCh37 |
| NC_000023.9:g.153295080T>C | NCBI36 |
| NG_009634.1:g.7010T>C | |
| NG_012884.2:g.3540A>G | |
| NG_009634.2:g.7015T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.886T>C | ||
| ENST00000698235.1:n.426T>C | ||
| ENST00000698317.1:n.1412T>C | ||
| ENST00000698318.1:n.1285T>C | ||
| ENST00000470127.2:n.630T>C | ||
| ENST00000475699.6:c.406T>C | ENSP00000419854.3:p.Cys136Arg | |
| ENST00000476800.2:n.1538T>C | ||
| ENST00000483674.3:n.243T>C | ||
| ENST00000601016.6:c.352T>C MANE Select | ENSP00000469981.1:p.Cys118Arg | |
| ENST00000612012.5:c.352T>C | ENSP00000482070.2:p.Cys118Arg | |
| ENST00000612460.5:c.352T>C | ENSP00000481037.1:p.Cys118Arg | |
| ENST00000614595.2:n.1789T>C | ||
| ENST00000615658.5:n.665T>C | ||
| ENST00000616020.5:c.406T>C | ENSP00000483636.2:p.Cys136Arg | |
| ENST00000617701.5:c.*170T>C | ENSP00000481645.1:n.*170T>C | |
| ENST00000621647.2:n.634T>C | ||
| ENST00000652354.1:c.76T>C | ENSP00000498734.1:p.Cys26Arg | |
| ENST00000652358.1:c.145T>C | ENSP00000498464.1:p.Cys49Arg | |
| ENST00000652390.1:c.271T>C | ENSP00000498858.1:p.Cys91Arg | |
| ENST00000652476.1:n.742T>C | ||
| ENST00000652682.1:c.352T>C | ENSP00000498288.1:p.Cys118Arg | |
| ENST00000652685.1:n.510T>C | ||
| ENST00000369776.8:c.277T>C | ENSP00000358791.4:p.Cys93Arg | |
| ENST00000426231.5:c.268T>C | ||
| ENST00000439735.2:c.352T>C | ENSP00000398193.1:p.Cys118Arg | |
| ENST00000470127.1:n.21T>C | ||
| ENST00000475699.5:c.352T>C | ENSP00000419854.2:p.Cys118Arg | |
| ENST00000476679.5:n.265T>C | ||
| ENST00000476800.1:n.459T>C | ||
| ENST00000479875.1:n.381T>C | ||
| ENST00000483674.2:n.61T>C | ||
| ENST00000483780.5:n.126T>C | ||
| ENST00000601016.5:c.352T>C | ENSP00000469981.1:p.Cys118Arg | |
| ENST00000612012.4:c.406T>C | ENSP00000482070.1:p.Cys136Arg | |
| ENST00000612460.4:c.352T>C | ENSP00000481037.1:p.Cys118Arg | |
| ENST00000613002.4:c.352T>C | ENSP00000478154.1:p.Cys118Arg | |
| ENST00000613634.4:n.672T>C | ||
| ENST00000615658.4:n.765T>C | ||
| ENST00000615986.4:c.*170T>C | ENSP00000480133.1:n.*170T>C | |
| ENST00000616020.4:c.406T>C | ENSP00000483636.1:p.Cys136Arg | |
| ENST00000617701.4:c.*182T>C | ENSP00000481645.1:n.*182T>C | |
| ENST00000620808.4:c.*151T>C | ENSP00000479311.1:n.*151T>C | |
| ENST00000621647.1:n.866T>C | ||
| NM_000116.4:c.352T>C | NP_000107.1:p.Cys118Arg | |
| NM_001303465.1:c.406T>C | NP_001290394.1:p.Cys136Arg | |
| NM_181311.3:c.352T>C | NP_851828.1:p.Cys118Arg | |
| NM_181312.3:c.352T>C | NP_851829.1:p.Cys118Arg | |
| NM_181313.3:c.352T>C | NP_851830.1:p.Cys118Arg | |
| NR_024048.2:n.784T>C | ||
| XM_006724836.1:c.406T>C | XP_006724899.1:p.Cys136Arg | |
| XM_006724837.1:c.406T>C | XP_006724900.1:p.Cys136Arg | |
| XM_006724839.1:c.406T>C | XP_006724902.1:p.Cys136Arg | |
| XM_006724841.2:c.145T>C | XP_006724904.1:p.Cys49Arg | |
| XM_006724842.2:c.145T>C | XP_006724905.1:p.Cys49Arg | |
| XM_011531189.1:c.406T>C | XP_011529491.1:p.Cys136Arg | |
| XM_011531190.1:c.145T>C | XP_011529492.1:p.Cys49Arg | |
| XM_011531191.1:c.76T>C | XP_011529493.1:p.Cys26Arg | |
| XM_011531192.1:c.73T>C | XP_011529494.1:p.Cys25Arg | |
| XR_938511.1:n.709T>C | ||
| XM_006724841.4:c.145T>C | XP_006724904.1:p.Cys49Arg | |
| XM_006724842.4:c.145T>C | XP_006724905.1:p.Cys49Arg | |
| XM_011531191.2:c.76T>C | XP_011529493.1:p.Cys26Arg | |
| XM_017029761.1:c.352T>C | XP_016885250.1:p.Cys118Arg | |
| XM_017029762.1:c.406T>C | XP_016885251.1:p.Cys136Arg | |
| XM_017029763.1:c.352T>C | XP_016885252.1:p.Cys118Arg | |
| XM_017029764.1:c.73T>C | XP_016885253.1:p.Cys25Arg | |
| XM_017029765.2:c.145T>C | XP_016885254.1:p.Cys49Arg | |
| XM_024452431.1:c.406T>C | XP_024308199.1:p.Cys136Arg | |
| NM_000116.5:c.352T>C MANE Select | NP_000107.1:p.Cys118Arg | |
| NM_001303465.2:c.406T>C | NP_001290394.1:p.Cys136Arg | |
| NM_181311.4:c.352T>C | NP_851828.1:p.Cys118Arg | |
| NM_181312.4:c.352T>C | NP_851829.1:p.Cys118Arg | |
| NM_181313.4:c.352T>C | NP_851830.1:p.Cys118Arg | |
| NR_024048.3:n.763T>C |