Linked Data
ClinVar Variation Id:
41502
ClinVar RCV Id:
RCV000034384
RCV000077988
RCV000115083
RCV000196915
RCV000203169
RCV000393833
RCV001353808
RCV003996152
RCV003534314
dbSNP Id:
rs143638171
ExAC:
5:112174677 T / C
gnomAD v2:
5-112174677-T-C
gnomAD v3:
5-112838980-T-C
gnomAD v4:
5-112838980-T-C
COSMIC:
COSM30751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838980T>C , CM000667.2:g.112838980T>C | GRCh38 |
| NC_000005.9:g.112174677T>C , CM000667.1:g.112174677T>C | GRCh37 |
| NC_000005.8:g.112202576T>C | NCBI36 |
| NG_008481.4:g.151460T>C , LRG_130:g.151460T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3051T>C | ENSP00000484935.2:n.3051T>C | |
| ENST00000504915.3:c.3440T>C | ENSP00000473355.2:p.Leu1147Ser | |
| ENST00000505350.2:c.*3392T>C | ENSP00000481752.1:n.*3392T>C | |
| ENST00000507379.6:c.3332T>C | ENSP00000423224.2:p.Leu1111Ser | |
| ENST00000509732.6:c.3386T>C | ENSP00000426541.2:p.Leu1129Ser | |
| ENST00000512211.7:c.3386T>C | ENSP00000423828.3:p.Leu1129Ser | |
| ENST00000257430.9:c.3386T>C MANE Select | ENSP00000257430.4:p.Leu1129Ser | |
| ENST00000257430.8:c.3386T>C | ENSP00000257430.4:p.Leu1129Ser | |
| ENST00000502371.2:c.1739T>C | ||
| ENST00000507379.5:c.3332T>C | ENSP00000423224.1:p.Leu1111Ser | |
| ENST00000508376.6:c.3386T>C | ENSP00000427089.2:p.Leu1129Ser | |
| ENST00000508624.5:c.*2708T>C | ENSP00000424265.1:n.*2708T>C | |
| ENST00000512211.6:c.3386T>C | ENSP00000423828.2:p.Leu1129Ser | |
| ENST00000520401.1:c.230+10008T>C | ||
| NM_000038.5:c.3386T>C | NP_000029.2:p.Leu1129Ser | |
| NM_001127510.2:c.3386T>C | NP_001120982.1:p.Leu1129Ser | |
| NM_001127511.2:c.3332T>C | NP_001120983.2:p.Leu1111Ser | |
| NM_001354895.1:c.3386T>C | NP_001341824.1:p.Leu1129Ser | |
| NM_001354896.1:c.3440T>C | NP_001341825.1:p.Leu1147Ser | |
| NM_001354897.1:c.3416T>C | NP_001341826.1:p.Leu1139Ser | |
| NM_001354898.1:c.3311T>C | NP_001341827.1:p.Leu1104Ser | |
| NM_001354899.1:c.3302T>C | NP_001341828.1:p.Leu1101Ser | |
| NM_001354900.1:c.3263T>C | NP_001341829.1:p.Leu1088Ser | |
| NM_001354901.1:c.3209T>C | NP_001341830.1:p.Leu1070Ser | |
| NM_001354902.1:c.3113T>C | NP_001341831.1:p.Leu1038Ser | |
| NM_001354903.1:c.3083T>C | NP_001341832.1:p.Leu1028Ser | |
| NM_001354904.1:c.3008T>C | NP_001341833.1:p.Leu1003Ser | |
| NM_001354905.1:c.2906T>C | NP_001341834.1:p.Leu969Ser | |
| NM_001354906.1:c.2537T>C | NP_001341835.1:p.Leu846Ser | |
| NM_000038.6:c.3386T>C MANE Select | NP_000029.2:p.Leu1129Ser | |
| NM_001127510.3:c.3386T>C | NP_001120982.1:p.Leu1129Ser | |
| NM_001127511.3:c.3332T>C | NP_001120983.2:p.Leu1111Ser | |
| NM_001354895.2:c.3386T>C | NP_001341824.1:p.Leu1129Ser | |
| NM_001354896.2:c.3440T>C | NP_001341825.1:p.Leu1147Ser | |
| NM_001354897.2:c.3416T>C | NP_001341826.1:p.Leu1139Ser | |
| NM_001354898.2:c.3311T>C | NP_001341827.1:p.Leu1104Ser | |
| NM_001354899.2:c.3302T>C | NP_001341828.1:p.Leu1101Ser | |
| NM_001354900.2:c.3263T>C | NP_001341829.1:p.Leu1088Ser | |
| NM_001354901.2:c.3209T>C | NP_001341830.1:p.Leu1070Ser | |
| NM_001354902.2:c.3113T>C | NP_001341831.1:p.Leu1038Ser | |
| NM_001354903.2:c.3083T>C | NP_001341832.1:p.Leu1028Ser | |
| NM_001354904.2:c.3008T>C | NP_001341833.1:p.Leu1003Ser | |
| NM_001354905.2:c.2906T>C | NP_001341834.1:p.Leu969Ser | |
| NM_001354906.2:c.2537T>C | NP_001341835.1:p.Leu846Ser |