Linked Data
dbSNP Id:
rs1372390997
gnomAD v2:
12-121615140-G-A
gnomAD v3:
12-121177337-G-A
gnomAD v4:
12-121177337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177337G>A , CM000674.2:g.121177337G>A | GRCh38 |
| NC_000012.11:g.121615140G>A , CM000674.1:g.121615140G>A | GRCh37 |
| NC_000012.10:g.120099523G>A | NCBI36 |
| NG_011471.2:g.49463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1079G>A MANE Select | ENSP00000330696.6:p.Ser360Asn | |
| ENST00000261826.10:c.*532G>A | ENSP00000261826.6:n.*532G>A | |
| ENST00000328963.9:c.1079G>A | ENSP00000330696.6:p.Ser360Asn | |
| ENST00000535250.5:c.1163G>A | ENSP00000442572.2:n.1163G>A | |
| ENST00000535600.2:c.896G>A | ENSP00000442470.1:n.896G>A | |
| ENST00000537312.5:c.*850G>A | ENSP00000438586.1:n.*850G>A | |
| ENST00000538011.5:c.1218G>A | ENSP00000439247.1:n.1218G>A | |
| ENST00000539606.5:c.1302G>A | ENSP00000445325.1:n.1302G>A | |
| ENST00000539695.5:n.1248G>A | ||
| ENST00000541022.5:c.869G>A | ENSP00000441230.1:n.869G>A | |
| ENST00000541564.5:c.942G>A | ENSP00000443640.1:n.942G>A | |
| ENST00000541716.5:c.1090G>A | ENSP00000437729.1:n.1090G>A | |
| NM_002562.5:c.1079G>A | NP_002553.3:p.Ser360Asn | |
| NR_033948.1:n.1445G>A | ||
| NR_033949.1:n.1361G>A | ||
| NR_033950.1:n.1322G>A | ||
| NR_033951.1:n.1306G>A | ||
| NR_033952.1:n.1233G>A | ||
| NR_033953.1:n.1146G>A | ||
| NR_033954.1:n.1125G>A | ||
| NR_033955.1:n.1085G>A | ||
| NR_033956.1:n.1012G>A | ||
| XM_011538418.1:c.812G>A | XP_011536720.1:p.Ser271Asn | |
| XM_011538419.1:c.767G>A | XP_011536721.1:p.Ser256Asn | |
| XM_011538420.1:c.212G>A | XP_011536722.1:p.Ser71Asn | |
| XR_945459.1:n.190-14920C>T | ||
| XR_945460.1:n.299-14920C>T | ||
| XM_011538419.3:c.767G>A | XP_011536721.1:p.Ser256Asn | |
| XM_011538420.3:c.212G>A | XP_011536722.1:p.Ser71Asn | |
| XM_017019364.2:c.719G>A | XP_016874853.1:p.Ser240Asn | |
| XM_017019365.2:c.719G>A | XP_016874854.1:p.Ser240Asn | |
| XM_017019366.2:c.326G>A | XP_016874855.1:p.Ser109Asn | |
| XM_017019367.2:c.326G>A | XP_016874856.1:p.Ser109Asn | |
| XR_001749352.2:n.186+26161C>T | ||
| XR_001749353.2:n.304-14920C>T | ||
| XR_001749354.2:n.186+26161C>T | ||
| XR_945459.3:n.187-14920C>T | ||
| XR_945460.3:n.299-14920C>T | ||
| NM_002562.6:c.1079G>A MANE Select | NP_002553.3:p.Ser360Asn | |
| NR_033948.2:n.1397G>A | ||
| NR_033949.2:n.1313G>A | ||
| NR_033950.2:n.1274G>A | ||
| NR_033951.2:n.1258G>A | ||
| NR_033952.2:n.1185G>A | ||
| NR_033953.2:n.1089G>A | ||
| NR_033954.2:n.1077G>A | ||
| NR_033955.2:n.1037G>A | ||
| NR_033956.2:n.964G>A |