Linked Data
dbSNP Id:
rs1025504277
gnomAD v2:
3-120357158-G-C
gnomAD v3:
3-120638311-G-C
gnomAD v4:
3-120638311-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638311G>C , CM000665.2:g.120638311G>C | GRCh38 |
| NC_000003.11:g.120357158G>C , CM000665.1:g.120357158G>C | GRCh37 |
| NC_000003.10:g.121839848G>C | NCBI36 |
| NG_011957.1:g.49171C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1006+144C>G MANE Select | ENSP00000283871.5:n.1006+144C>G | |
| ENST00000283871.9:c.1006+144C>G | ENSP00000283871.5:n.1006+144C>G | |
| ENST00000470321.1:n.346+144C>G | ||
| ENST00000475447.2:c.307+3278C>G | ||
| ENST00000492108.5:c.285+3278C>G | ENSP00000419838.1:n.285+3278C>G | |
| ENST00000494453.1:c.426+144C>G | ||
| NM_000187.3:c.1006+144C>G | NP_000178.2:n.1006+144C>G | |
| XM_005247412.1:c.781+144C>G | XP_005247469.1:n.781+144C>G | |
| XM_005247413.1:c.1006+144C>G | XP_005247470.1:n.1006+144C>G | |
| XM_011512746.1:c.879+3278C>G | XP_011511048.1:n.879+3278C>G | |
| XM_005247412.2:c.781+144C>G | XP_005247469.1:n.781+144C>G | |
| XM_005247413.2:c.1006+144C>G | XP_005247470.1:n.1006+144C>G | |
| XM_011512746.2:c.879+3278C>G | XP_011511048.1:n.879+3278C>G | |
| XM_017006277.2:c.583+144C>G | XP_016861766.1:n.583+144C>G | |
| NM_000187.4:c.1006+144C>G MANE Select | NP_000178.2:n.1006+144C>G |