Linked Data
dbSNP Id:
rs189169638
gnomAD v2:
3-15520652-T-C
gnomAD v3:
3-15479145-T-C
gnomAD v4:
3-15479145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15479145T>C , CM000665.2:g.15479145T>C | GRCh38 |
| NC_000003.11:g.15520652T>C , CM000665.1:g.15520652T>C | GRCh37 |
| NC_000003.10:g.15495656T>C | NCBI36 |
| NG_009032.1:g.47607A>G | |
| NG_009032.2:g.47607A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.367-142A>G MANE Select | ENSP00000373298.3:n.367-142A>G | |
| ENST00000679838.1:c.*129-142A>G | ENSP00000505708.1:n.*129-142A>G | |
| ENST00000681097.1:c.367-142A>G | ENSP00000505397.1:n.367-142A>G | |
| ENST00000383781.8:c.337-142A>G | ENSP00000373291.3:n.337-142A>G | |
| ENST00000383786.9:c.265-142A>G | ENSP00000373296.3:n.265-142A>G | |
| ENST00000383788.9:c.367-142A>G | ENSP00000373298.3:n.367-142A>G | |
| ENST00000603469.1:n.38-142A>G | ||
| ENST00000603808.5:c.367-142A>G | ENSP00000474271.1:n.367-142A>G | |
| ENST00000605797.1:c.196-142A>G | ENSP00000474936.1:n.196-142A>G | |
| NM_005677.3:c.367-142A>G | NP_005668.2:n.367-142A>G | |
| NM_080538.2:c.337-142A>G | NP_536799.1:n.337-142A>G | |
| NM_080539.3:c.265-142A>G | NP_536800.2:n.265-142A>G | |
| NM_005677.4:c.367-142A>G MANE Select | NP_005668.2:n.367-142A>G | |
| NM_080539.4:c.265-142A>G | NP_536800.2:n.265-142A>G |