Linked Data
dbSNP Id:
rs201336964
ExAC:
5:180030244 T / G
gnomAD v2:
5-180030244-T-G
gnomAD v4:
5-180603244-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603244T>G , CM000667.2:g.180603244T>G | GRCh38 |
| NC_000005.9:g.180030244T>G , CM000667.1:g.180030244T>G | GRCh37 |
| NC_000005.8:g.179962850T>G | NCBI36 |
| NG_011536.1:g.51381A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.4040A>C MANE Select | ENSP00000261937.6:p.Asp1347Ala | |
| ENST00000261937.10:c.4040A>C | ENSP00000261937.6:p.Asp1347Ala | |
| ENST00000502603.5:n.740A>C | ||
| NM_182925.4:c.4040A>C | NP_891555.2:p.Asp1347Ala | |
| XM_011534477.1:c.4289A>C | XP_011532779.1:p.Asp1430Ala | |
| XM_011534478.1:c.4271A>C | XP_011532780.1:p.Asp1424Ala | |
| XM_011534482.1:c.4058A>C | XP_011532784.1:p.Asp1353Ala | |
| XM_011534483.1:c.3980A>C | XP_011532785.1:p.Asp1327Ala | |
| XM_011534484.1:c.3581A>C | XP_011532786.1:p.Asp1194Ala | |
| XR_941095.1:n.4326A>C | ||
| XM_011534478.3:c.4271A>C | XP_011532780.1:p.Asp1424Ala | |
| XM_011534484.2:c.3581A>C | XP_011532786.1:p.Asp1194Ala | |
| XM_017009263.1:c.*186A>C | XP_016864752.1:n.*186A>C | |
| XM_017009268.1:c.3962A>C | XP_016864757.1:p.Asp1321Ala | |
| XR_001742050.2:n.4530A>C | ||
| NM_182925.5:c.4040A>C MANE Select | NP_891555.2:p.Asp1347Ala |