Linked Data
dbSNP Id:
rs779843986
ExAC:
5:127636545 G / C
gnomAD v2:
5-127636545-G-C
gnomAD v4:
5-128300853-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300853G>C , CM000667.2:g.128300853G>C | GRCh38 |
| NC_000005.9:g.127636545G>C , CM000667.1:g.127636545G>C | GRCh37 |
| NC_000005.8:g.127664444G>C | NCBI36 |
| NG_008750.1:g.242191C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2914C>G | ||
| ENST00000703785.1:n.2833C>G | ||
| ENST00000262464.9:c.6130C>G MANE Select | ENSP00000262464.4:p.Pro2044Ala | |
| ENST00000262464.8:c.6130C>G | ENSP00000262464.4:p.Pro2044Ala | |
| ENST00000508053.5:c.6130C>G | ENSP00000424571.1:p.Pro2044Ala | |
| ENST00000619499.4:c.6127C>G | ENSP00000482132.1:p.Pro2043Ala | |
| NM_001999.3:c.6130C>G | NP_001990.2:p.Pro2044Ala | |
| XM_017009228.2:c.5977C>G | XP_016864717.1:p.Pro1993Ala | |
| NM_001999.4:c.6130C>G MANE Select | NP_001990.2:p.Pro2044Ala |