Linked Data
dbSNP Id:
rs763040033
ExAC:
17:4858504 G / C
gnomAD v2:
17-4858504-G-C
gnomAD v3:
17-4955209-G-C
gnomAD v4:
17-4955209-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955209G>C , CM000679.2:g.4955209G>C | GRCh38 |
| NC_000017.10:g.4858504G>C , CM000679.1:g.4858504G>C | GRCh37 |
| NC_000017.9:g.4799250G>C | NCBI36 |
| NG_012063.2:g.14119G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.579G>C MANE Select | ENSP00000430055.2:p.Lys193Asn | |
| ENST00000323997.10:c.579G>C | ENSP00000324105.6:p.Lys193Asn | |
| ENST00000518175.1:c.579G>C | ENSP00000431087.1:p.Lys193Asn | |
| ENST00000519584.5:c.450G>C | ENSP00000430636.1:p.Lys150Asn | |
| ENST00000519602.5:c.579G>C | ENSP00000430055.1:p.Lys193Asn | |
| ENST00000520221.5:c.579G>C | ENSP00000467444.1:p.Lys193Asn | |
| ENST00000521659.5:c.*525G>C | ENSP00000430554.1:n.*525G>C | |
| ENST00000522301.5:c.579G>C | ENSP00000465697.1:p.Lys193Asn | |
| NM_001193503.1:c.450G>C | NP_001180432.1:p.Lys150Asn | |
| NM_001976.4:c.579G>C | NP_001967.3:p.Lys193Asn | |
| NM_053013.3:c.579G>C | NP_443739.3:p.Lys193Asn | |
| XM_005256521.2:c.606G>C | XP_005256578.1:p.Lys202Asn | |
| XM_011523729.1:c.579G>C | XP_011522031.1:p.Lys193Asn | |
| XM_017024346.2:c.579G>C | XP_016879835.1:p.Lys193Asn | |
| NM_001193503.2:c.450G>C | NP_001180432.1:p.Lys150Asn | |
| NM_001374523.1:c.579G>C | NP_001361452.1:p.Lys193Asn | |
| NM_001374524.1:c.606G>C | NP_001361453.1:p.Lys202Asn | |
| NM_001976.5:c.579G>C | NP_001967.3:p.Lys193Asn | |
| NM_053013.4:c.579G>C MANE Select | NP_443739.3:p.Lys193Asn |