Linked Data
dbSNP Id:
rs3733197
ExAC:
4:102839287 G / A
gnomAD v2:
4-102839287-G-A
gnomAD v3:
4-101918130-G-A
gnomAD v4:
4-101918130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101918130G>A , CM000666.2:g.101918130G>A | GRCh38 |
| NC_000004.11:g.102839287G>A , CM000666.1:g.102839287G>A | GRCh37 |
| NC_000004.10:g.103058310G>A | NCBI36 |
| NG_015824.1:g.132524G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322953.9:c.1147G>A MANE Select | ENSP00000320509.4:p.Ala383Thr | |
| ENST00000322953.8:c.1147G>A | ENSP00000320509.4:p.Ala383Thr | |
| ENST00000428908.5:c.748G>A | ENSP00000412748.1:p.Ala250Thr | |
| ENST00000444316.2:c.1057G>A | ENSP00000388817.2:p.Ala353Thr | |
| ENST00000504592.5:c.1102G>A | ENSP00000421443.1:p.Ala368Thr | |
| ENST00000508653.5:c.748G>A | ENSP00000422314.1:p.Ala250Thr | |
| NM_001083907.2:c.1057G>A | NP_001077376.2:p.Ala353Thr | |
| NM_001127507.2:c.748G>A | NP_001120979.2:p.Ala250Thr | |
| NM_017935.4:c.1147G>A | NP_060405.4:p.Ala383Thr | |
| XM_017008337.2:c.1057G>A | XP_016863826.1:p.Ala353Thr | |
| NM_017935.5:c.1147G>A MANE Select | NP_060405.5:p.Ala383Thr | |
| NM_001083907.3:c.1057G>A | NP_001077376.3:p.Ala353Thr | |
| NM_001127507.3:c.748G>A | NP_001120979.3:p.Ala250Thr |