Linked Data
dbSNP Id:
rs2516839
gnomAD v2:
1-161013121-C-T
gnomAD v3:
1-161043331-C-T
gnomAD v4:
1-161043331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161043331C>T , CM000663.2:g.161043331C>T | GRCh38 |
| NC_000001.10:g.161013121C>T , CM000663.1:g.161013121C>T | GRCh37 |
| NC_000001.9:g.159279745C>T | NCBI36 |
| NG_011612.1:g.7637G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368019.5:c.-56G>A | ENSP00000356998.1:n.-56G>A | |
| ENST00000368020.5:c.-56G>A | ENSP00000356999.1:n.-56G>A | |
| ENST00000368021.7:c.-56G>A MANE Select | ENSP00000357000.3:n.-56G>A | |
| ENST00000473969.6:c.-56G>A | ENSP00000435671.1:n.-56G>A | |
| ENST00000491629.5:n.81G>A | ||
| ENST00000496363.5:n.85G>A | ||
| ENST00000529476.1:n.112G>A | ||
| ENST00000531842.1:c.-56G>A | ENSP00000435005.1:n.-56G>A | |
| ENST00000534633.5:c.-248G>A | ENSP00000432533.1:n.-248G>A | |
| NM_001276373.1:c.-56G>A | NP_001263302.1:n.-56G>A | |
| NM_007122.4:c.-56G>A | NP_009053.1:n.-56G>A | |
| NM_207005.2:c.-202G>A | NP_996888.1:n.-202G>A | |
| NM_007122.5:c.-56G>A MANE Select | NP_009053.1:n.-56G>A | |
| NM_001276373.2:c.-56G>A | NP_001263302.1:n.-56G>A | |
| NM_207005.3:c.-202G>A | NP_996888.1:n.-202G>A |