Linked Data
dbSNP Id:
rs748122146
ExAC:
5:38481892 A / C
gnomAD v2:
5-38481892-A-C
gnomAD v4:
5-38481790-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38481790A>C , CM000667.2:g.38481790A>C | GRCh38 |
| NC_000005.9:g.38481892A>C , CM000667.1:g.38481892A>C | GRCh37 |
| NC_000005.8:g.38517649A>C | NCBI36 |
| NG_011817.1:g.118616T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453190.7:c.3099T>G MANE Select | ENSP00000398368.2:p.Asn1033Lys | |
| ENST00000263409.8:c.3099T>G | ENSP00000263409.4:p.Asn1033Lys | |
| ENST00000453190.6:c.3099T>G | ENSP00000398368.2:p.Asn1033Lys | |
| NM_001127671.1:c.3099T>G | NP_001121143.1:p.Asn1033Lys | |
| NM_002310.5:c.3099T>G | NP_002301.1:p.Asn1033Lys | |
| XM_011514040.1:c.3099T>G | XP_011512342.1:p.Asn1033Lys | |
| XM_011514041.1:c.3099T>G | XP_011512343.1:p.Asn1033Lys | |
| XM_011514042.1:c.3099T>G | XP_011512344.1:p.Asn1033Lys | |
| NM_001364297.1:c.3099T>G | NP_001351226.1:p.Asn1033Lys | |
| NM_001364298.1:c.3066T>G | NP_001351227.1:p.Asn1022Lys | |
| XM_011514042.3:c.3099T>G | XP_011512344.1:p.Asn1033Lys | |
| XM_017009462.1:c.3153T>G | XP_016864951.1:p.Asn1051Lys | |
| XM_017009463.1:c.3099T>G | XP_016864952.1:p.Asn1033Lys | |
| NM_001127671.2:c.3099T>G MANE Select | NP_001121143.1:p.Asn1033Lys | |
| NM_002310.6:c.3099T>G | NP_002301.1:p.Asn1033Lys | |
| NM_001364297.2:c.3099T>G | NP_001351226.1:p.Asn1033Lys | |
| NM_001364298.2:c.3066T>G | NP_001351227.1:p.Asn1022Lys |