Linked Data
dbSNP Id:
rs1424117367
gnomAD v2:
17-48276682-C-G
gnomAD v3:
17-50199321-C-G
gnomAD v4:
17-50199321-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199321C>G , CM000679.2:g.50199321C>G | GRCh38 |
| NC_000017.10:g.48276682C>G , CM000679.1:g.48276682C>G | GRCh37 |
| NC_000017.9:g.45631681C>G | NCBI36 |
| NG_007400.1:g.7319G>C , LRG_1:g.7319G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.376G>C MANE Select | ENSP00000225964.6:p.Ala126Pro | |
| ENST00000225964.9:c.376G>C | ENSP00000225964.5:p.Ala126Pro | |
| ENST00000474644.1:n.597G>C | ||
| ENST00000507689.1:c.430G>C | ENSP00000460459.1:p.Ala144Pro | |
| NM_000088.3:c.376G>C , LRG_1t1:c.376G>C | NP_000079.2:p.Ala126Pro | |
| XM_005257058.3:c.376G>C | XP_005257115.2:p.Ala126Pro | |
| XM_005257059.3:c.376G>C | XP_005257116.2:p.Ala126Pro | |
| XM_011524341.1:c.376G>C | XP_011522643.1:p.Ala126Pro | |
| XM_005257058.4:c.376G>C | XP_005257115.2:p.Ala126Pro | |
| XM_005257059.4:c.376G>C | XP_005257116.2:p.Ala126Pro | |
| NM_000088.4:c.376G>C MANE Select | NP_000079.2:p.Ala126Pro |