Linked Data
dbSNP Id:
rs766080550
ExAC:
2:25965033 G / C
gnomAD v2:
2-25965033-G-C
gnomAD v3:
2-25742164-G-C
gnomAD v4:
2-25742164-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742164G>C , CM000664.2:g.25742164G>C | GRCh38 |
| NC_000002.11:g.25965033G>C , CM000664.1:g.25965033G>C | GRCh37 |
| NC_000002.10:g.25818537G>C | NCBI36 |
| NG_052995.1:g.141353C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4170C>G | ENSP00000337250.5:p.Asn1390Lys | |
| ENST00000435504.9:c.4173C>G MANE Select | ENSP00000391447.3:p.Asn1391Lys | |
| ENST00000336112.8:c.4089C>G | ENSP00000337250.4:p.Asn1363Lys | |
| ENST00000404843.5:c.2622C>G | ENSP00000383920.1:p.Asn874Lys | |
| ENST00000435504.8:c.4173C>G | ENSP00000391447.3:p.Asn1391Lys | |
| NM_018263.4:c.4173C>G | NP_060733.4:p.Asn1391Lys | |
| XM_006712039.2:c.3807C>G | XP_006712102.1:p.Asn1269Lys | |
| XM_006712040.1:c.3393C>G | XP_006712103.1:p.Asn1131Lys | |
| XM_011532950.1:c.4170C>G | XP_011531252.1:p.Asn1390Lys | |
| XM_011532951.1:c.3999C>G | XP_011531253.1:p.Asn1333Lys | |
| NM_018263.5:c.4173C>G | NP_060733.4:p.Asn1391Lys | |
| XM_006712039.3:c.3807C>G | XP_006712102.1:p.Asn1269Lys | |
| XM_006712040.2:c.3393C>G | XP_006712103.1:p.Asn1131Lys | |
| XM_011532950.3:c.4170C>G | XP_011531252.1:p.Asn1390Lys | |
| XM_011532951.2:c.3999C>G | XP_011531253.1:p.Asn1333Lys | |
| XM_017004430.1:c.3393C>G | XP_016859919.1:p.Asn1131Lys | |
| XM_024452974.1:c.4353C>G | XP_024308742.1:p.Asn1451Lys | |
| NM_001369346.1:c.3999C>G | NP_001356275.1:p.Asn1333Lys | |
| NM_001369347.1:c.3393C>G | NP_001356276.1:p.Asn1131Lys | |
| NM_018263.6:c.4173C>G MANE Select | NP_060733.4:p.Asn1391Lys |