Linked Data
dbSNP Id:
rs6877011
gnomAD v2:
5-180029471-C-G
gnomAD v3:
5-180602471-C-G
gnomAD v4:
5-180602471-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180602471C>G , CM000667.2:g.180602471C>G | GRCh38 |
| NC_000005.9:g.180029471C>G , CM000667.1:g.180029471C>G | GRCh37 |
| NC_000005.8:g.179962077C>G | NCBI36 |
| NG_011536.1:g.52154G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261937.11:c.*721G>C MANE Select | ENSP00000261937.6:n.*721G>C | |
| ENST00000261937.10:c.*721G>C | ENSP00000261937.6:n.*721G>C | |
| NM_182925.4:c.*721G>C | NP_891555.2:n.*721G>C | |
| XM_011534477.1:c.*721G>C | XP_011532779.1:n.*721G>C | |
| XM_011534478.1:c.*721G>C | XP_011532780.1:n.*721G>C | |
| XM_011534482.1:c.*721G>C | XP_011532784.1:n.*721G>C | |
| XM_011534483.1:c.*721G>C | XP_011532785.1:n.*721G>C | |
| XM_011534484.1:c.*721G>C | XP_011532786.1:n.*721G>C | |
| XM_011534478.3:c.*721G>C | XP_011532780.1:n.*721G>C | |
| XM_011534484.2:c.*721G>C | XP_011532786.1:n.*721G>C | |
| XM_017009263.1:c.*959G>C | XP_016864752.1:n.*959G>C | |
| XM_017009268.1:c.*721G>C | XP_016864757.1:n.*721G>C | |
| XR_001742050.2:n.5303G>C | ||
| NM_182925.5:c.*721G>C MANE Select | NP_891555.2:n.*721G>C |