Linked Data
dbSNP Id:
rs1038631371
gnomAD v2:
19-7592046-T-C
gnomAD v3:
19-7527160-T-C
gnomAD v4:
19-7527160-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527160T>C , CM000681.2:g.7527160T>C | GRCh38 |
| NC_000019.9:g.7592046T>C , CM000681.1:g.7592046T>C | GRCh37 |
| NC_000019.8:g.7498046T>C | NCBI36 |
| NG_015806.1:g.9551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.571+234T>C MANE Select | ENSP00000264079.5:n.571+234T>C | |
| ENST00000264079.10:c.571+234T>C | ENSP00000264079.5:n.571+234T>C | |
| ENST00000394321.9:n.651+234T>C | ||
| ENST00000596008.1:n.767T>C | ||
| ENST00000598406.1:n.392+234T>C | ||
| ENST00000601003.1:c.571+234T>C | ENSP00000469074.1:n.571+234T>C | |
| NM_020533.2:c.571+234T>C | NP_065394.1:n.571+234T>C | |
| NM_020533.3:c.571+234T>C MANE Select | NP_065394.1:n.571+234T>C |