Linked Data
dbSNP Id:
rs1054886049
gnomAD v2:
3-38442687-T-G
gnomAD v3:
3-38401196-T-G
gnomAD v4:
3-38401196-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38401196T>G , CM000665.2:g.38401196T>G | GRCh38 |
| NC_000003.11:g.38442687T>G , CM000665.1:g.38442687T>G | GRCh37 |
| NC_000003.10:g.38417691T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000207870.8:c.1533+211T>G MANE Select | ENSP00000207870.3:n.1533+211T>G | |
| ENST00000649234.1:c.*768+211T>G | ENSP00000497023.1:n.*768+211T>G | |
| ENST00000650590.1:c.1452+211T>G | ENSP00000496840.1:n.1452+211T>G | |
| ENST00000207870.7:c.1533+211T>G | ENSP00000207870.3:n.1533+211T>G | |
| ENST00000424034.5:c.*1196+211T>G | ENSP00000398845.1:n.*1196+211T>G | |
| ENST00000472721.1:n.410+211T>G | ||
| NM_005108.3:c.1533+211T>G | NP_005099.2:n.1533+211T>G | |
| XM_011534325.1:c.1533+211T>G | XP_011532627.1:n.1533+211T>G | |
| XM_011534326.1:c.1452+211T>G | XP_011532628.1:n.1452+211T>G | |
| XM_011534327.1:c.1533+211T>G | XP_011532629.1:n.1533+211T>G | |
| XM_011534328.1:c.1533+211T>G | XP_011532630.1:n.1533+211T>G | |
| XM_011534329.1:c.1533+211T>G | XP_011532631.1:n.1533+211T>G | |
| XM_011534330.1:c.1533+211T>G | XP_011532632.1:n.1533+211T>G | |
| NM_001349178.1:c.1533+211T>G | NP_001336107.1:n.1533+211T>G | |
| NM_001349179.1:c.1122+211T>G | NP_001336108.1:n.1122+211T>G | |
| NR_146068.1:n.1450+211T>G | ||
| XM_011534325.3:c.1533+211T>G | XP_011532627.1:n.1533+211T>G | |
| XM_011534327.2:c.1533+211T>G | XP_011532629.1:n.1533+211T>G | |
| XM_011534328.3:c.1533+211T>G | XP_011532630.1:n.1533+211T>G | |
| XM_011534329.2:c.1533+211T>G | XP_011532631.1:n.1533+211T>G | |
| XM_011534330.3:c.1533+211T>G | XP_011532632.1:n.1533+211T>G | |
| XM_017007595.1:c.1122+211T>G | XP_016863084.1:n.1122+211T>G | |
| XM_017007596.1:c.1335+211T>G | XP_016863085.1:n.1335+211T>G | |
| XM_017007597.1:c.852+211T>G | XP_016863086.1:n.852+211T>G | |
| XM_024453850.1:c.1335+211T>G | XP_024309618.1:n.1335+211T>G | |
| NM_001349178.2:c.1533+211T>G | NP_001336107.1:n.1533+211T>G | |
| NM_005108.4:c.1533+211T>G MANE Select | NP_005099.2:n.1533+211T>G | |
| NR_146068.2:n.1425+211T>G | ||
| NM_001349179.2:c.1122+211T>G | NP_001336108.1:n.1122+211T>G |