Linked Data
dbSNP Id:
rs774116160
ExAC:
12:102224420 T / G
gnomAD v2:
12-102224420-T-G
gnomAD v3:
12-101830642-T-G
gnomAD v4:
12-101830642-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830642T>G , CM000674.2:g.101830642T>G | GRCh38 |
| NC_000012.11:g.102224420T>G , CM000674.1:g.102224420T>G | GRCh37 |
| NC_000012.10:g.100748551T>G | NCBI36 |
| NG_021243.1:g.5226A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.34A>C MANE Select | ENSP00000299314.7:p.Thr12Pro | |
| ENST00000647144.1:n.22A>C | ||
| ENST00000299314.11:c.34A>C | ENSP00000299314.7:p.Thr12Pro | |
| ENST00000392919.4:c.34A>C | ENSP00000376651.4:p.Thr12Pro | |
| ENST00000549165.1:c.34A>C | ENSP00000450413.1:p.Thr12Pro | |
| ENST00000549940.5:c.34A>C | ENSP00000449150.1:p.Thr12Pro | |
| NM_024312.4:c.34A>C | NP_077288.2:p.Thr12Pro | |
| XM_006719593.2:c.34A>C | XP_006719656.1:p.Thr12Pro | |
| XM_006719593.3:c.34A>C | XP_006719656.1:p.Thr12Pro | |
| XM_017019961.1:c.-116A>C | XP_016875450.1:n.-116A>C | |
| XM_017019962.2:c.-1317A>C | XP_016875451.1:n.-1317A>C | |
| NM_024312.5:c.34A>C MANE Select | NP_077288.2:p.Thr12Pro |