Linked Data
dbSNP Id:
rs762244436
ExAC:
2:25965084 A / G
gnomAD v2:
2-25965084-A-G
gnomAD v4:
2-25742215-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742215A>G , CM000664.2:g.25742215A>G | GRCh38 |
| NC_000002.11:g.25965084A>G , CM000664.1:g.25965084A>G | GRCh37 |
| NC_000002.10:g.25818588A>G | NCBI36 |
| NG_052995.1:g.141302T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4119T>C | ENSP00000337250.5:p.Asn1373= | |
| ENST00000435504.9:c.4122T>C MANE Select | ENSP00000391447.3:p.Asn1374= | |
| ENST00000336112.8:c.4038T>C | ENSP00000337250.4:p.Asn1346= | |
| ENST00000404843.5:c.2571T>C | ENSP00000383920.1:p.Asn857= | |
| ENST00000435504.8:c.4122T>C | ENSP00000391447.3:p.Asn1374= | |
| NM_018263.4:c.4122T>C | NP_060733.4:p.Asn1374= | |
| XM_006712039.2:c.3756T>C | XP_006712102.1:p.Asn1252= | |
| XM_006712040.1:c.3342T>C | XP_006712103.1:p.Asn1114= | |
| XM_011532950.1:c.4119T>C | XP_011531252.1:p.Asn1373= | |
| XM_011532951.1:c.3948T>C | XP_011531253.1:p.Asn1316= | |
| NM_018263.5:c.4122T>C | NP_060733.4:p.Asn1374= | |
| XM_006712039.3:c.3756T>C | XP_006712102.1:p.Asn1252= | |
| XM_006712040.2:c.3342T>C | XP_006712103.1:p.Asn1114= | |
| XM_011532950.3:c.4119T>C | XP_011531252.1:p.Asn1373= | |
| XM_011532951.2:c.3948T>C | XP_011531253.1:p.Asn1316= | |
| XM_017004430.1:c.3342T>C | XP_016859919.1:p.Asn1114= | |
| XM_024452974.1:c.4302T>C | XP_024308742.1:p.Asn1434= | |
| NM_001369346.1:c.3948T>C | NP_001356275.1:p.Asn1316= | |
| NM_001369347.1:c.3342T>C | NP_001356276.1:p.Asn1114= | |
| NM_018263.6:c.4122T>C MANE Select | NP_060733.4:p.Asn1374= |