Linked Data
dbSNP Id:
rs149810208
ExAC:
13:110821981 T / C
gnomAD v2:
13-110821981-T-C
gnomAD v3:
13-110169634-T-C
gnomAD v4:
13-110169634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169634T>C , CM000675.2:g.110169634T>C | GRCh38 |
| NC_000013.10:g.110821981T>C , CM000675.1:g.110821981T>C | GRCh37 |
| NC_000013.9:g.109619982T>C | NCBI36 |
| NG_011544.2:g.142516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3871A>G MANE Select | ENSP00000364979.4:p.Met1291Val | |
| ENST00000650424.1:c.27A>G | ||
| ENST00000375820.8:c.3871A>G | ENSP00000364979.4:p.Met1291Val | |
| NM_001845.5:c.3871A>G | NP_001836.3:p.Met1291Val | |
| XM_011521048.1:c.3679A>G | XP_011519350.1:p.Met1227Val | |
| XM_011521048.2:c.3679A>G | XP_011519350.1:p.Met1227Val | |
| NM_001845.6:c.3871A>G MANE Select | NP_001836.3:p.Met1291Val |