Linked Data
ClinVar Variation Id:
133538
ClinVar RCV Id:
RCV000120048
RCV000122774
RCV000568279
RCV003650380
RCV003997337
RCV003905137
RCV001704031
dbSNP Id:
rs575268622
ExAC:
5:112174923 T / G
gnomAD v2:
5-112174923-T-G
gnomAD v3:
5-112839226-T-G
gnomAD v4:
5-112839226-T-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839226T>G , CM000667.2:g.112839226T>G | GRCh38 |
| NC_000005.9:g.112174923T>G , CM000667.1:g.112174923T>G | GRCh37 |
| NC_000005.8:g.112202822T>G | NCBI36 |
| NG_008481.4:g.151706T>G , LRG_130:g.151706T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3297T>G | ENSP00000484935.2:n.3297T>G | |
| ENST00000504915.3:c.3686T>G | ENSP00000473355.2:p.Met1229Arg | |
| ENST00000505350.2:c.*3638T>G | ENSP00000481752.1:n.*3638T>G | |
| ENST00000507379.6:c.3578T>G | ENSP00000423224.2:p.Met1193Arg | |
| ENST00000509732.6:c.3632T>G | ENSP00000426541.2:p.Met1211Arg | |
| ENST00000512211.7:c.3632T>G | ENSP00000423828.3:p.Met1211Arg | |
| ENST00000257430.9:c.3632T>G MANE Select | ENSP00000257430.4:p.Met1211Arg | |
| ENST00000257430.8:c.3632T>G | ENSP00000257430.4:p.Met1211Arg | |
| ENST00000502371.2:c.1985T>G | ||
| ENST00000508376.6:c.3632T>G | ENSP00000427089.2:p.Met1211Arg | |
| ENST00000508624.5:c.*2954T>G | ENSP00000424265.1:n.*2954T>G | |
| ENST00000512211.6:c.3632T>G | ENSP00000423828.2:p.Met1211Arg | |
| ENST00000520401.1:c.230+10254T>G | ||
| NM_000038.5:c.3632T>G | NP_000029.2:p.Met1211Arg | |
| NM_001127510.2:c.3632T>G | NP_001120982.1:p.Met1211Arg | |
| NM_001127511.2:c.3578T>G | NP_001120983.2:p.Met1193Arg | |
| NM_001354895.1:c.3632T>G | NP_001341824.1:p.Met1211Arg | |
| NM_001354896.1:c.3686T>G | NP_001341825.1:p.Met1229Arg | |
| NM_001354897.1:c.3662T>G | NP_001341826.1:p.Met1221Arg | |
| NM_001354898.1:c.3557T>G | NP_001341827.1:p.Met1186Arg | |
| NM_001354899.1:c.3548T>G | NP_001341828.1:p.Met1183Arg | |
| NM_001354900.1:c.3509T>G | NP_001341829.1:p.Met1170Arg | |
| NM_001354901.1:c.3455T>G | NP_001341830.1:p.Met1152Arg | |
| NM_001354902.1:c.3359T>G | NP_001341831.1:p.Met1120Arg | |
| NM_001354903.1:c.3329T>G | NP_001341832.1:p.Met1110Arg | |
| NM_001354904.1:c.3254T>G | NP_001341833.1:p.Met1085Arg | |
| NM_001354905.1:c.3152T>G | NP_001341834.1:p.Met1051Arg | |
| NM_001354906.1:c.2783T>G | NP_001341835.1:p.Met928Arg | |
| NM_000038.6:c.3632T>G MANE Select | NP_000029.2:p.Met1211Arg | |
| NM_001127510.3:c.3632T>G | NP_001120982.1:p.Met1211Arg | |
| NM_001127511.3:c.3578T>G | NP_001120983.2:p.Met1193Arg | |
| NM_001354895.2:c.3632T>G | NP_001341824.1:p.Met1211Arg | |
| NM_001354896.2:c.3686T>G | NP_001341825.1:p.Met1229Arg | |
| NM_001354897.2:c.3662T>G | NP_001341826.1:p.Met1221Arg | |
| NM_001354898.2:c.3557T>G | NP_001341827.1:p.Met1186Arg | |
| NM_001354899.2:c.3548T>G | NP_001341828.1:p.Met1183Arg | |
| NM_001354900.2:c.3509T>G | NP_001341829.1:p.Met1170Arg | |
| NM_001354901.2:c.3455T>G | NP_001341830.1:p.Met1152Arg | |
| NM_001354902.2:c.3359T>G | NP_001341831.1:p.Met1120Arg | |
| NM_001354903.2:c.3329T>G | NP_001341832.1:p.Met1110Arg | |
| NM_001354904.2:c.3254T>G | NP_001341833.1:p.Met1085Arg | |
| NM_001354905.2:c.3152T>G | NP_001341834.1:p.Met1051Arg | |
| NM_001354906.2:c.2783T>G | NP_001341835.1:p.Met928Arg |