Linked Data
ClinVar Variation Id:
630112
ClinVar RCV Id:
RCV000775127
dbSNP Id:
rs774212108
ExAC:
5:112157593 T / C
gnomAD v2:
5-112157593-T-C
gnomAD v4:
5-112821896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112821896T>C , CM000667.2:g.112821896T>C | GRCh38 |
| NC_000005.9:g.112157593T>C , CM000667.1:g.112157593T>C | GRCh37 |
| NC_000005.8:g.112185492T>C | NCBI36 |
| NG_008481.4:g.134376T>C , LRG_130:g.134376T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1313T>C | ENSP00000484935.2:p.Met438Thr | |
| ENST00000504915.3:c.1313T>C | ENSP00000473355.2:p.Met438Thr | |
| ENST00000505084.2:n.1369T>C | ||
| ENST00000505350.2:c.*1319T>C | ENSP00000481752.1:n.*1319T>C | |
| ENST00000507379.6:c.1259T>C | ENSP00000423224.2:p.Met420Thr | |
| ENST00000509732.6:c.1313T>C | ENSP00000426541.2:p.Met438Thr | |
| ENST00000512211.7:c.1313T>C | ENSP00000423828.3:p.Met438Thr | |
| ENST00000257430.9:c.1313T>C MANE Select | ENSP00000257430.4:p.Met438Thr | |
| ENST00000257430.8:c.1313T>C | ENSP00000257430.4:p.Met438Thr | |
| ENST00000502371.2:c.1T>C | ||
| ENST00000507379.5:c.1259T>C | ENSP00000423224.1:p.Met420Thr | |
| ENST00000508376.6:c.1313T>C | ENSP00000427089.2:p.Met438Thr | |
| ENST00000508624.5:c.*635T>C | ENSP00000424265.1:n.*635T>C | |
| ENST00000512211.6:c.1313T>C | ENSP00000423828.2:p.Met438Thr | |
| NM_000038.5:c.1313T>C | NP_000029.2:p.Met438Thr | |
| NM_001127510.2:c.1313T>C | NP_001120982.1:p.Met438Thr | |
| NM_001127511.2:c.1259T>C | NP_001120983.2:p.Met420Thr | |
| NM_001354895.1:c.1313T>C | NP_001341824.1:p.Met438Thr | |
| NM_001354896.1:c.1313T>C | NP_001341825.1:p.Met438Thr | |
| NM_001354897.1:c.1343T>C | NP_001341826.1:p.Met448Thr | |
| NM_001354898.1:c.1238T>C | NP_001341827.1:p.Met413Thr | |
| NM_001354899.1:c.1229T>C | NP_001341828.1:p.Met410Thr | |
| NM_001354900.1:c.1136T>C | NP_001341829.1:p.Met379Thr | |
| NM_001354901.1:c.1136T>C | NP_001341830.1:p.Met379Thr | |
| NM_001354902.1:c.1040T>C | NP_001341831.1:p.Met347Thr | |
| NM_001354903.1:c.1010T>C | NP_001341832.1:p.Met337Thr | |
| NM_001354904.1:c.935T>C | NP_001341833.1:p.Met312Thr | |
| NM_001354905.1:c.833T>C | NP_001341834.1:p.Met278Thr | |
| NM_001354906.1:c.464T>C | NP_001341835.1:p.Met155Thr | |
| NM_000038.6:c.1313T>C MANE Select | NP_000029.2:p.Met438Thr | |
| NM_001127510.3:c.1313T>C | NP_001120982.1:p.Met438Thr | |
| NM_001127511.3:c.1259T>C | NP_001120983.2:p.Met420Thr | |
| NM_001354895.2:c.1313T>C | NP_001341824.1:p.Met438Thr | |
| NM_001354896.2:c.1313T>C | NP_001341825.1:p.Met438Thr | |
| NM_001354897.2:c.1343T>C | NP_001341826.1:p.Met448Thr | |
| NM_001354898.2:c.1238T>C | NP_001341827.1:p.Met413Thr | |
| NM_001354899.2:c.1229T>C | NP_001341828.1:p.Met410Thr | |
| NM_001354900.2:c.1136T>C | NP_001341829.1:p.Met379Thr | |
| NM_001354901.2:c.1136T>C | NP_001341830.1:p.Met379Thr | |
| NM_001354902.2:c.1040T>C | NP_001341831.1:p.Met347Thr | |
| NM_001354903.2:c.1010T>C | NP_001341832.1:p.Met337Thr | |
| NM_001354904.2:c.935T>C | NP_001341833.1:p.Met312Thr | |
| NM_001354905.2:c.833T>C | NP_001341834.1:p.Met278Thr | |
| NM_001354906.2:c.464T>C | NP_001341835.1:p.Met155Thr |