Linked Data
dbSNP Id:
rs185808242
ExAC:
5:180030346 G / A
gnomAD v2:
5-180030346-G-A
gnomAD v3:
5-180603346-G-A
gnomAD v4:
5-180603346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603346G>A , CM000667.2:g.180603346G>A | GRCh38 |
| NC_000005.9:g.180030346G>A , CM000667.1:g.180030346G>A | GRCh37 |
| NC_000005.8:g.179962952G>A | NCBI36 |
| NG_011536.1:g.51279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3938C>T MANE Select | ENSP00000261937.6:p.Pro1313Leu | |
| ENST00000261937.10:c.3938C>T | ENSP00000261937.6:p.Pro1313Leu | |
| ENST00000502603.5:n.638C>T | ||
| NM_182925.4:c.3938C>T | NP_891555.2:p.Pro1313Leu | |
| XM_011534477.1:c.4187C>T | XP_011532779.1:p.Pro1396Leu | |
| XM_011534478.1:c.4169C>T | XP_011532780.1:p.Pro1390Leu | |
| XM_011534479.1:c.*84C>T | XP_011532781.1:n.*84C>T | |
| XM_011534482.1:c.3956C>T | XP_011532784.1:p.Pro1319Leu | |
| XM_011534483.1:c.3878C>T | XP_011532785.1:p.Pro1293Leu | |
| XM_011534484.1:c.3479C>T | XP_011532786.1:p.Pro1160Leu | |
| XR_941095.1:n.4224C>T | ||
| XM_011534478.3:c.4169C>T | XP_011532780.1:p.Pro1390Leu | |
| XM_011534484.2:c.3479C>T | XP_011532786.1:p.Pro1160Leu | |
| XM_017009263.1:c.*84C>T | XP_016864752.1:n.*84C>T | |
| XM_017009268.1:c.3860C>T | XP_016864757.1:p.Pro1287Leu | |
| XR_001742050.2:n.4428C>T | ||
| NM_182925.5:c.3938C>T MANE Select | NP_891555.2:p.Pro1313Leu |