Linked Data
ClinVar Variation Id:
2292955
ClinVar RCV Id:
RCV002873003
dbSNP Id:
rs746207295
gnomAD v2:
5-180036934-T-C
gnomAD v3:
5-180609934-T-C
gnomAD v4:
5-180609934-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180609934T>C , CM000667.2:g.180609934T>C | GRCh38 |
| NC_000005.9:g.180036934T>C , CM000667.1:g.180036934T>C | GRCh37 |
| NC_000005.8:g.179969540T>C | NCBI36 |
| NG_011536.1:g.44691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3778A>G MANE Select | ENSP00000261937.6:p.Met1260Val | |
| ENST00000261937.10:c.3778A>G | ENSP00000261937.6:p.Met1260Val | |
| ENST00000393347.7:c.3778A>G | ENSP00000377016.3:p.Met1260Val | |
| ENST00000502603.5:n.478A>G | ||
| ENST00000502649.5:c.3778A>G | ENSP00000426057.1:p.Met1260Val | |
| ENST00000507059.5:n.4128A>G | ||
| ENST00000619105.4:c.*2721A>G | ENSP00000481134.1:n.*2721A>G | |
| NM_002020.4:c.3778A>G | NP_002011.2:p.Met1260Val | |
| NM_182925.4:c.3778A>G | NP_891555.2:p.Met1260Val | |
| XM_011534477.1:c.4027A>G | XP_011532779.1:p.Met1343Val | |
| XM_011534478.1:c.4009A>G | XP_011532780.1:p.Met1337Val | |
| XM_011534479.1:c.4027A>G | XP_011532781.1:p.Met1343Val | |
| XM_011534480.1:c.4027A>G | XP_011532782.1:p.Met1343Val | |
| XM_011534481.1:c.4027A>G | XP_011532783.1:p.Met1343Val | |
| XM_011534482.1:c.3796A>G | XP_011532784.1:p.Met1266Val | |
| XM_011534483.1:c.3718A>G | XP_011532785.1:p.Met1240Val | |
| XM_011534484.1:c.3319A>G | XP_011532786.1:p.Met1107Val | |
| XR_941095.1:n.4064A>G | ||
| NM_001354989.1:c.3778A>G | NP_001341918.1:p.Met1260Val | |
| XM_011534478.3:c.4009A>G | XP_011532780.1:p.Met1337Val | |
| XM_011534484.2:c.3319A>G | XP_011532786.1:p.Met1107Val | |
| XM_017009263.1:c.4009A>G | XP_016864752.1:p.Met1337Val | |
| XM_017009264.2:c.4009A>G | XP_016864753.1:p.Met1337Val | |
| XM_017009265.1:c.4009A>G | XP_016864754.1:p.Met1337Val | |
| XM_017009266.1:c.4009A>G | XP_016864755.1:p.Met1337Val | |
| XM_017009267.2:c.4009A>G | XP_016864756.1:p.Met1337Val | |
| XM_017009268.1:c.3700A>G | XP_016864757.1:p.Met1234Val | |
| XR_001742050.2:n.4268A>G | ||
| NM_182925.5:c.3778A>G MANE Select | NP_891555.2:p.Met1260Val | |
| NM_001354989.2:c.3778A>G | NP_001341918.1:p.Met1260Val | |
| NM_002020.5:c.3778A>G | NP_002011.2:p.Met1260Val |