Linked Data
dbSNP Id:
rs756173983
ExAC:
13:47466706 C / G
gnomAD v2:
13-47466706-C-G
gnomAD v4:
13-46892571-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46892571C>G , CM000675.2:g.46892571C>G | GRCh38 |
| NC_000013.10:g.47466706C>G , CM000675.1:g.47466706C>G | GRCh37 |
| NC_000013.9:g.46364707C>G | NCBI36 |
| NG_013011.1:g.9464G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.432G>C MANE Select | ENSP00000437737.1:p.Pro144= | |
| ENST00000543956.5:c.-58G>C | ENSP00000441861.2:n.-58G>C | |
| ENST00000378688.8:c.432G>C | ENSP00000367959.3:p.Pro144= | |
| ENST00000542664.3:c.432G>C | ENSP00000437737.1:p.Pro144= | |
| ENST00000543956.4:c.180G>C | ENSP00000441861.1:p.Pro60= | |
| NM_000621.4:c.432G>C | NP_000612.1:p.Pro144= | |
| NM_001165947.2:c.180G>C | NP_001159419.1:p.Pro60= | |
| NM_000621.5:c.432G>C MANE Select | NP_000612.1:p.Pro144= | |
| NM_001165947.5:c.-58G>C | NP_001159419.2:n.-58G>C | |
| NM_001378924.1:c.432G>C | NP_001365853.1:p.Pro144= |