Linked Data
dbSNP Id:
rs377363402
gnomAD v2:
21-47558548-G-T
gnomAD v3:
21-46138634-G-T
gnomAD v4:
21-46138634-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138634G>T , CM000683.2:g.46138634G>T | GRCh38 |
| NC_000021.8:g.47558548G>T , CM000683.1:g.47558548G>T | GRCh37 |
| NC_000021.7:g.46382976G>T | NCBI36 |
| NG_016191.1:g.21934C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-148C>A | ENSP00000507070.1:n.-148C>A | |
| ENST00000494498.2:c.51C>A | ENSP00000507847.1:p.Ala17= | |
| ENST00000397746.8:c.1317C>A MANE Select | ENSP00000380854.3:p.Ala439= | |
| ENST00000291670.9:c.1317C>A | ENSP00000291670.5:p.Ala439= | |
| ENST00000397743.1:c.1273C>A | ENSP00000380851.1:p.Pro425Thr | |
| ENST00000397746.7:c.1317C>A | ENSP00000380854.3:p.Ala439= | |
| ENST00000397748.5:c.1317C>A | ENSP00000380856.1:p.Ala439= | |
| ENST00000460011.5:n.646C>A | ||
| ENST00000488577.1:n.343C>A | ||
| ENST00000494498.1:n.618C>A | ||
| ENST00000498355.6:n.1386C>A | ||
| NM_006657.2:c.1317C>A | NP_006648.1:p.Ala439= | |
| NM_206965.1:c.1317C>A | NP_996848.1:p.Ala439= | |
| XM_006723961.2:c.1566C>A | XP_006724024.2:p.Ala522= | |
| XM_006723962.2:c.1566C>A | XP_006724025.2:p.Ala522= | |
| XM_011529434.1:c.1566C>A | XP_011527736.1:p.Ala522= | |
| XM_011529435.1:c.1437C>A | XP_011527737.1:p.Ala479= | |
| XM_011529436.1:c.1566C>A | XP_011527738.1:p.Ala522= | |
| XM_011529437.1:c.1566C>A | XP_011527739.1:p.Ala522= | |
| XM_011529438.1:c.1437C>A | XP_011527740.1:p.Ala479= | |
| XM_011529439.1:c.1053C>A | XP_011527741.1:p.Ala351= | |
| XR_937433.1:n.1749C>A | ||
| NM_001320412.1:c.1317C>A | NP_001307341.1:p.Ala439= | |
| XM_006723961.4:c.1566C>A | XP_006724024.2:p.Ala522= | |
| XM_006723962.4:c.1566C>A | XP_006724025.2:p.Ala522= | |
| XM_011529434.3:c.1566C>A | XP_011527736.1:p.Ala522= | |
| XM_011529435.3:c.1437C>A | XP_011527737.1:p.Ala479= | |
| XM_011529436.3:c.1566C>A | XP_011527738.1:p.Ala522= | |
| XM_011529437.3:c.1566C>A | XP_011527739.1:p.Ala522= | |
| XM_011529439.2:c.1053C>A | XP_011527741.1:p.Ala351= | |
| XR_937433.3:n.1783C>A | ||
| NM_206965.2:c.1317C>A MANE Select | NP_996848.1:p.Ala439= | |
| NM_001320412.2:c.1317C>A | NP_001307341.1:p.Ala439= | |
| NM_006657.3:c.1317C>A | NP_006648.1:p.Ala439= |