Linked Data
dbSNP Id:
rs753655968
ExAC:
19:18266953 T / C
gnomAD v2:
19-18266953-T-C
gnomAD v3:
19-18156143-T-C
gnomAD v4:
19-18156143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156143T>C , CM000681.2:g.18156143T>C | GRCh38 |
| NC_000019.9:g.18266953T>C , CM000681.1:g.18266953T>C | GRCh37 |
| NC_000019.8:g.18127953T>C | NCBI36 |
| NG_033010.1:g.7966T>C | |
| NG_033010.2:g.7966T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.264T>C MANE Select | ENSP00000222254.6:p.Pro88= | |
| ENST00000617130.5:c.264T>C | ENSP00000477864.2:p.Pro88= | |
| ENST00000617642.2:c.264T>C | ENSP00000484714.2:p.Pro88= | |
| ENST00000222254.12:c.264T>C | ENSP00000222254.6:p.Pro88= | |
| ENST00000426902.5:c.264T>C | ENSP00000395636.1:p.Pro88= | |
| ENST00000593731.1:c.264T>C | ENSP00000471914.1:p.Pro88= | |
| ENST00000617130.4:c.264T>C | ENSP00000477864.1:p.Pro88= | |
| ENST00000617642.1:c.264T>C | ENSP00000484714.1:p.Pro88= | |
| NM_005027.3:c.264T>C | NP_005018.1:p.Pro88= | |
| NR_073517.1:n.804T>C | ||
| NM_005027.4:c.264T>C MANE Select | NP_005018.2:p.Pro88= | |
| NR_073517.2:n.819T>C | ||
| NR_162071.1:n.819T>C |