Linked Data
ClinVar Variation Id:
336200
ClinVar RCV Id:
RCV000279645
dbSNP Id:
rs555017366
ExAC:
2:44531279 T / C
gnomAD v2:
2-44531279-T-C
gnomAD v3:
2-44304140-T-C
gnomAD v4:
2-44304140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44304140T>C , CM000664.2:g.44304140T>C | GRCh38 |
| NC_000002.11:g.44531279T>C , CM000664.1:g.44531279T>C | GRCh37 |
| NC_000002.10:g.44384783T>C | NCBI36 |
| NG_008233.1:g.33683T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1137-3T>C MANE Select | ENSP00000260649.6:n.1137-3T>C | |
| ENST00000649044.1:c.*1148-3T>C | ENSP00000497083.1:n.*1148-3T>C | |
| ENST00000260649.10:c.1137-3T>C | ENSP00000260649.6:n.1137-3T>C | |
| ENST00000409229.7:c.1137-3T>C | ENSP00000386620.3:n.1137-3T>C | |
| ENST00000409294.5:c.-4-3T>C | ENSP00000386852.1:n.-4-3T>C | |
| ENST00000409380.5:c.303-3T>C | ENSP00000386709.1:n.303-3T>C | |
| ENST00000409387.5:c.1137-3T>C | ENSP00000387308.1:n.1137-3T>C | |
| ENST00000409740.3:c.27T>C | ENSP00000386677.3:p.Tyr9= | |
| ENST00000409741.5:c.1137-3T>C | ENSP00000386954.1:n.1137-3T>C | |
| ENST00000611973.4:c.1137-3T>C | ENSP00000483618.1:n.1137-3T>C | |
| NM_000341.3:c.1137-3T>C | NP_000332.2:n.1137-3T>C | |
| XM_011533047.1:c.1137-3T>C | XP_011531349.1:n.1137-3T>C | |
| XM_011533047.3:c.1137-3T>C | XP_011531349.1:n.1137-3T>C | |
| NM_000341.4:c.1137-3T>C MANE Select | NP_000332.2:n.1137-3T>C |