Linked Data
dbSNP Id:
rs1475991228
gnomAD v2:
10-102748300-T-C
gnomAD v3:
10-100988543-T-C
gnomAD v4:
10-100988543-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100988543T>C , CM000672.2:g.100988543T>C | GRCh38 |
| NC_000010.10:g.102748300T>C , CM000672.1:g.102748300T>C | GRCh37 |
| NC_000010.9:g.102738290T>C | NCBI36 |
| NG_011646.1:g.3973A>G | |
| NG_012624.1:g.6008T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.333T>C MANE Select | ENSP00000309595.2:p.Phe111= | |
| ENST00000370228.2:c.333T>C | ENSP00000359248.1:p.Phe111= | |
| ENST00000643860.1:c.333T>C | ENSP00000494389.1:p.Phe111= | |
| ENST00000646226.1:n.58+930T>C | ||
| ENST00000311916.6:c.333T>C | ENSP00000309595.2:p.Phe111= | |
| ENST00000370228.1:c.333T>C | ENSP00000359248.1:p.Phe111= | |
| ENST00000459764.1:n.86+663T>C | ||
| ENST00000473656.5:n.64+930T>C | ||
| ENST00000476766.5:n.191+986T>C | ||
| NM_001163812.1:c.333T>C | NP_001157284.1:p.Phe111= | |
| NM_001163813.1:c.-120+930T>C | NP_001157285.1:n.-120+930T>C | |
| NM_001163814.1:c.-120+930T>C | NP_001157286.1:n.-120+930T>C | |
| NM_021830.4:c.333T>C | NP_068602.2:p.Phe111= | |
| XM_011539975.1:c.-58+930T>C | XP_011538277.1:n.-58+930T>C | |
| XR_945788.1:n.1166T>C | ||
| XM_011539975.2:c.-58+930T>C | XP_011538277.1:n.-58+930T>C | |
| XM_017016437.1:c.-968T>C | XP_016871926.1:n.-968T>C | |
| XR_001747142.1:n.507T>C | ||
| XR_001747144.1:n.507T>C | ||
| XR_002956991.1:n.507T>C | ||
| XR_945788.2:n.507T>C | ||
| NM_021830.5:c.333T>C MANE Select | NP_068602.2:p.Phe111= | |
| NM_001163812.2:c.333T>C | NP_001157284.1:p.Phe111= | |
| NM_001163813.2:c.-120+930T>C | NP_001157285.1:n.-120+930T>C | |
| NM_001163814.2:c.-120+930T>C | NP_001157286.1:n.-120+930T>C | |
| NM_001368275.1:c.-58+930T>C | NP_001355204.1:n.-58+930T>C | |
| NR_160738.1:n.1001T>C | ||
| NR_160739.1:n.71+930T>C | ||
| NR_160740.1:n.1001T>C | ||
| NR_160741.1:n.1001T>C | ||
| NR_160742.1:n.1001T>C |