Linked Data
dbSNP Id:
rs1983853
gnomAD v2:
1-85311192-C-T
gnomAD v3:
1-84845509-C-T
gnomAD v4:
1-84845509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84845509C>T , CM000663.2:g.84845509C>T | GRCh38 |
| NC_000001.10:g.85311192C>T , CM000663.1:g.85311192C>T | GRCh37 |
| NC_000001.9:g.85083780C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370611.4:c.736+19876G>A MANE Select | ENSP00000359643.3:n.736+19876G>A | |
| ENST00000370611.3:c.736+19876G>A | ENSP00000359643.3:n.736+19876G>A | |
| ENST00000440886.1:c.736+19876G>A | ENSP00000395389.1:n.736+19876G>A | |
| ENST00000491034.1:n.615+19876G>A | ||
| NM_012152.2:c.736+19876G>A | NP_036284.1:n.736+19876G>A | |
| XM_011541149.1:c.736+19876G>A | XP_011539451.1:n.736+19876G>A | |
| XM_024446127.1:c.769+19876G>A | XP_024301895.1:n.769+19876G>A | |
| XM_024446128.1:c.736+19876G>A | XP_024301896.1:n.736+19876G>A | |
| NM_012152.3:c.736+19876G>A MANE Select | NP_036284.1:n.736+19876G>A |