Linked Data
dbSNP Id:
rs2048167841
gnomAD v3:
9-271630-T-C
gnomAD v4:
9-271630-T-C
MyVariant Identifiers:
chr9:g.271630T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.271630T>C , CM000671.2:g.271630T>C | GRCh38 |
| NC_000009.11:g.271630T>C , CM000671.1:g.271630T>C | GRCh37 |
| NC_000009.10:g.261630T>C | NCBI36 |
| NG_017007.1:g.61766T>C , LRG_196:g.61766T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.-148T>C | ENSP00000371766.2:n.-148T>C | |
| ENST00000682121.1:n.166-14831T>C | ||
| ENST00000684166.1:n.166T>C | ||
| ENST00000684384.1:n.166T>C | ||
| ENST00000432829.7:c.57T>C MANE Select | ENSP00000394888.3:p.Tyr19= | |
| ENST00000432829.6:c.57T>C | ENSP00000394888.3:p.Tyr19= | |
| ENST00000454469.6:n.166T>C | ||
| ENST00000469197.5:c.57T>C | ENSP00000418587.1:p.Tyr19= | |
| ENST00000479404.5:c.-148T>C | ENSP00000417082.1:n.-148T>C | |
| ENST00000524396.5:c.*20T>C | ENSP00000436628.1:n.*20T>C | |
| NM_203447.3:c.57T>C , LRG_196t1:c.57T>C | NP_982272.2:p.Tyr19= | |
| XM_011518045.1:c.-148T>C | XP_011516347.1:n.-148T>C | |
| XM_011518047.1:c.-148T>C | XP_011516349.1:n.-148T>C | |
| XR_929404.1:n.88+1275A>G | ||
| XR_929406.1:n.1333+2654A>G | ||
| XM_011518045.3:c.-148T>C | XP_011516347.1:n.-148T>C | |
| XM_011518047.3:c.-148T>C | XP_011516349.1:n.-148T>C | |
| XM_017015173.1:c.-148T>C | XP_016870662.1:n.-148T>C | |
| NM_203447.4:c.57T>C MANE Select | NP_982272.2:p.Tyr19= |