Linked Data
dbSNP Id:
rs1449787801
gnomAD v2:
Y-14889910-T-C
gnomAD v3:
Y-12777976-T-C
gnomAD v4:
Y-12777976-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12777976T>C , CM000686.2:g.12777976T>C | GRCh38 |
| NC_000024.9:g.14889910T>C , CM000686.1:g.14889910T>C | GRCh37 |
| NC_000024.8:g.13399304T>C | NCBI36 |
| NG_008311.1:g.81751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.2640-43T>C | ENSP00000498372.1:n.2640-43T>C | |
| ENST00000338981.7:c.2640-43T>C MANE Select | ENSP00000342812.3:n.2640-43T>C | |
| ENST00000426564.6:n.2652-43T>C | ||
| NM_004654.3:c.2640-43T>C | NP_004645.2:n.2640-43T>C | |
| XM_011531469.1:c.2640-43T>C | XP_011529771.1:n.2640-43T>C | |
| XM_011531470.1:c.2406-43T>C | XP_011529772.1:n.2406-43T>C | |
| XM_017030078.2:c.2655-43T>C | XP_016885567.1:n.2655-43T>C | |
| NM_004654.4:c.2640-43T>C MANE Select | NP_004645.2:n.2640-43T>C |