Linked Data
ClinVar Variation Id:
833834
ClinVar RCV Id:
RCV001034341
dbSNP Id:
rs77288930
gnomAD v2:
16-10273872-T-C
gnomAD v4:
16-10180015-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10180015T>C , CM000678.2:g.10180015T>C | GRCh38 |
| NC_000016.9:g.10273872T>C , CM000678.1:g.10273872T>C | GRCh37 |
| NC_000016.8:g.10181373T>C | NCBI36 |
| NG_011812.1:g.7740A>G | |
| NG_011812.2:g.7740A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.397A>G MANE Select | ENSP00000332549.3:p.Met133Val | |
| ENST00000637334.1:n.76A>G | ||
| ENST00000675189.1:n.881A>G | ||
| ENST00000675398.1:c.397A>G | ENSP00000502752.1:p.Met133Val | |
| ENST00000676032.1:n.830A>G | ||
| ENST00000330684.3:c.397A>G | ENSP00000332549.3:p.Met133Val | |
| ENST00000396573.6:c.397A>G | ENSP00000379818.2:p.Met133Val | |
| ENST00000562109.5:c.397A>G | ENSP00000454998.1:p.Met133Val | |
| ENST00000566665.1:n.798A>G | ||
| NM_000833.4:c.397A>G | NP_000824.1:p.Met133Val | |
| NM_001134407.2:c.397A>G | NP_001127879.1:p.Met133Val | |
| NM_001134408.2:c.397A>G | NP_001127880.1:p.Met133Val | |
| XM_011522461.1:c.397A>G | XP_011520763.1:p.Met133Val | |
| XM_011522461.3:c.397A>G | XP_011520763.1:p.Met133Val | |
| XM_017023172.1:c.553A>G | XP_016878661.1:p.Met185Val | |
| XM_017023173.1:c.553A>G | XP_016878662.1:p.Met185Val | |
| NM_001134407.3:c.397A>G MANE Select | NP_001127879.1:p.Met133Val | |
| NM_000833.5:c.397A>G | NP_000824.1:p.Met133Val |