Linked Data
ClinVar Variation Id:
232817
ClinVar RCV Id:
RCV000215442
dbSNP Id:
rs560565848
ExAC:
5:112178241 T / C
gnomAD v2:
5-112178241-T-C
gnomAD v3:
5-112842544-T-C
gnomAD v4:
5-112842544-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842544T>C , CM000667.2:g.112842544T>C | GRCh38 |
| NC_000005.9:g.112178241T>C , CM000667.1:g.112178241T>C | GRCh37 |
| NC_000005.8:g.112206140T>C | NCBI36 |
| NG_008481.4:g.155024T>C , LRG_130:g.155024T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7004T>C | ENSP00000473355.2:p.Leu2335Ser | |
| ENST00000505350.2:c.*6956T>C | ENSP00000481752.1:n.*6956T>C | |
| ENST00000507379.6:c.6896T>C | ENSP00000423224.2:p.Leu2299Ser | |
| ENST00000509732.6:c.6950T>C | ENSP00000426541.2:p.Leu2317Ser | |
| ENST00000512211.7:c.6950T>C | ENSP00000423828.3:p.Leu2317Ser | |
| ENST00000257430.9:c.6950T>C MANE Select | ENSP00000257430.4:p.Leu2317Ser | |
| ENST00000257430.8:c.6950T>C | ENSP00000257430.4:p.Leu2317Ser | |
| ENST00000508376.6:c.6950T>C | ENSP00000427089.2:p.Leu2317Ser | |
| ENST00000508624.5:c.*6272T>C | ENSP00000424265.1:n.*6272T>C | |
| ENST00000520401.1:c.230+13572T>C | ||
| NM_000038.5:c.6950T>C | NP_000029.2:p.Leu2317Ser | |
| NM_001127510.2:c.6950T>C | NP_001120982.1:p.Leu2317Ser | |
| NM_001127511.2:c.6896T>C | NP_001120983.2:p.Leu2299Ser | |
| NM_001354895.1:c.6950T>C | NP_001341824.1:p.Leu2317Ser | |
| NM_001354896.1:c.7004T>C | NP_001341825.1:p.Leu2335Ser | |
| NM_001354897.1:c.6980T>C | NP_001341826.1:p.Leu2327Ser | |
| NM_001354898.1:c.6875T>C | NP_001341827.1:p.Leu2292Ser | |
| NM_001354899.1:c.6866T>C | NP_001341828.1:p.Leu2289Ser | |
| NM_001354900.1:c.6827T>C | NP_001341829.1:p.Leu2276Ser | |
| NM_001354901.1:c.6773T>C | NP_001341830.1:p.Leu2258Ser | |
| NM_001354902.1:c.6677T>C | NP_001341831.1:p.Leu2226Ser | |
| NM_001354903.1:c.6647T>C | NP_001341832.1:p.Leu2216Ser | |
| NM_001354904.1:c.6572T>C | NP_001341833.1:p.Leu2191Ser | |
| NM_001354905.1:c.6470T>C | NP_001341834.1:p.Leu2157Ser | |
| NM_001354906.1:c.6101T>C | NP_001341835.1:p.Leu2034Ser | |
| NM_000038.6:c.6950T>C MANE Select | NP_000029.2:p.Leu2317Ser | |
| NM_001127510.3:c.6950T>C | NP_001120982.1:p.Leu2317Ser | |
| NM_001127511.3:c.6896T>C | NP_001120983.2:p.Leu2299Ser | |
| NM_001354895.2:c.6950T>C | NP_001341824.1:p.Leu2317Ser | |
| NM_001354896.2:c.7004T>C | NP_001341825.1:p.Leu2335Ser | |
| NM_001354897.2:c.6980T>C | NP_001341826.1:p.Leu2327Ser | |
| NM_001354898.2:c.6875T>C | NP_001341827.1:p.Leu2292Ser | |
| NM_001354899.2:c.6866T>C | NP_001341828.1:p.Leu2289Ser | |
| NM_001354900.2:c.6827T>C | NP_001341829.1:p.Leu2276Ser | |
| NM_001354901.2:c.6773T>C | NP_001341830.1:p.Leu2258Ser | |
| NM_001354902.2:c.6677T>C | NP_001341831.1:p.Leu2226Ser | |
| NM_001354903.2:c.6647T>C | NP_001341832.1:p.Leu2216Ser | |
| NM_001354904.2:c.6572T>C | NP_001341833.1:p.Leu2191Ser | |
| NM_001354905.2:c.6470T>C | NP_001341834.1:p.Leu2157Ser | |
| NM_001354906.2:c.6101T>C | NP_001341835.1:p.Leu2034Ser |