Linked Data
dbSNP Id:
rs772388756
ExAC:
19:45296815 G / C
gnomAD v2:
19-45296815-G-C
gnomAD v4:
19-44793558-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793558G>C , CM000681.2:g.44793558G>C | GRCh38 |
| NC_000019.9:g.45296815G>C , CM000681.1:g.45296815G>C | GRCh37 |
| NC_000019.8:g.49988655G>C | NCBI36 |
| NG_054718.1:g.20704G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647358.2:c.1222G>C MANE Select | ENSP00000494162.1:p.Ala408Pro | |
| ENST00000270279.7:c.1222G>C | ENSP00000270279.3:p.Ala408Pro | |
| ENST00000341505.4:c.1084G>C | ENSP00000340250.4:p.Ala362Pro | |
| NM_001130852.1:c.1084G>C | NP_001124324.1:p.Ala362Pro | |
| NM_012116.3:c.1222G>C | NP_036248.3:p.Ala408Pro | |
| XM_005258696.2:c.1222G>C | XP_005258753.1:p.Ala408Pro | |
| XM_011526688.1:c.1222G>C | XP_011524990.1:p.Ala408Pro | |
| XM_011526689.1:c.1084G>C | XP_011524991.1:p.Ala362Pro | |
| XR_935783.1:n.1169G>C | ||
| NM_012116.4:c.1222G>C MANE Select | NP_036248.3:p.Ala408Pro | |
| XM_005258696.3:c.1222G>C | XP_005258753.1:p.Ala408Pro | |
| XM_011526688.2:c.1222G>C | XP_011524990.1:p.Ala408Pro | |
| XM_011526689.2:c.1084G>C | XP_011524991.1:p.Ala362Pro | |
| XR_935783.2:n.1174G>C |