Linked Data
dbSNP Id:
rs1319084606
gnomAD v2:
19-49469397-C-T
gnomAD v3:
19-48966140-C-T
gnomAD v4:
19-48966140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966140C>T , CM000681.2:g.48966140C>T | GRCh38 |
| NC_000019.9:g.49469397C>T , CM000681.1:g.49469397C>T | GRCh37 |
| NC_000019.8:g.54161209C>T | NCBI36 |
| NG_008152.1:g.5832C>T | |
| NG_012923.1:g.32214G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.250-141C>T MANE Select | ENSP00000366525.2:n.250-141C>T | |
| ENST00000331825.10:c.250-141C>T | ENSP00000366525.2:n.250-141C>T | |
| ENST00000622577.2:c.250-141C>T | ENSP00000484043.1:n.250-141C>T | |
| NM_000146.3:c.250-141C>T | NP_000137.2:n.250-141C>T | |
| XM_024451447.1:c.760-141C>T | XP_024307215.1:n.760-141C>T | |
| NM_000146.4:c.250-141C>T MANE Select | NP_000137.2:n.250-141C>T |