Linked Data
ClinVar Variation Id:
2876932
ClinVar RCV Id:
RCV003712596
dbSNP Id:
rs1171222613
gnomAD v2:
11-128680413-G-A
gnomAD v3:
11-128810518-G-A
gnomAD v4:
11-128810518-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810518G>A , CM000673.2:g.128810518G>A | GRCh38 |
| NC_000011.9:g.128680413G>A , CM000673.1:g.128680413G>A | GRCh37 |
| NC_000011.8:g.128185623G>A | NCBI36 |
| NG_032912.1:g.128984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.910G>A | ENSP00000513017.1:p.Ala304Thr | |
| ENST00000527786.7:c.889G>A MANE Select | ENSP00000433488.2:p.Ala297Thr | |
| ENST00000281428.12:c.691G>A | ENSP00000281428.8:p.Ala231Thr | |
| ENST00000344954.10:c.310G>A | ENSP00000339627.7:p.Ala104Thr | |
| ENST00000429175.7:c.*811G>A | ENSP00000399985.3:n.*811G>A | |
| ENST00000527786.6:c.889G>A | ENSP00000433488.2:p.Ala297Thr | |
| ENST00000528790.1:n.3472G>A | ||
| ENST00000534087.3:c.790G>A | ENSP00000432950.1:p.Ala264Thr | |
| ENST00000608303.5:c.*281G>A | ENSP00000477262.1:n.*281G>A | |
| NM_001167681.2:c.790G>A | NP_001161153.1:p.Ala264Thr | |
| NM_001271010.1:c.691G>A | NP_001257939.1:p.Ala231Thr | |
| NM_001271012.1:c.310G>A | NP_001257941.1:p.Ala104Thr | |
| NM_002017.4:c.889G>A | NP_002008.2:p.Ala297Thr | |
| XM_011542701.1:c.790G>A | XP_011541003.1:p.Ala264Thr | |
| XM_011542702.1:c.763G>A | XP_011541004.1:p.Ala255Thr | |
| XM_011542701.2:c.790G>A | XP_011541003.1:p.Ala264Thr | |
| XM_017017405.1:c.790G>A | XP_016872894.1:p.Ala264Thr | |
| XM_017017406.1:c.790G>A | XP_016872895.1:p.Ala264Thr | |
| NM_002017.5:c.889G>A MANE Select | NP_002008.2:p.Ala297Thr | |
| NM_001167681.3:c.790G>A | NP_001161153.1:p.Ala264Thr | |
| NM_001271010.2:c.691G>A | NP_001257939.1:p.Ala231Thr | |
| NM_001271012.2:c.310G>A | NP_001257941.1:p.Ala104Thr |