Linked Data
dbSNP Id:
rs1604805
gnomAD v2:
4-21571087-T-C
gnomAD v3:
4-21569464-T-C
gnomAD v4:
4-21569464-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.21569464T>C , CM000666.2:g.21569464T>C | GRCh38 |
| NC_000004.11:g.21571087T>C , CM000666.1:g.21571087T>C | GRCh37 |
| NC_000004.10:g.21180185T>C | NCBI36 |
| NG_052969.1:g.384288A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382152.7:c.61+379107A>G MANE Select | ENSP00000371587.2:n.61+379107A>G | |
| ENST00000382148.7:c.88+127886A>G | ENSP00000371583.3:n.88+127886A>G | |
| ENST00000382152.6:c.61+379107A>G | ENSP00000371587.2:n.61+379107A>G | |
| ENST00000447367.6:c.61+379107A>G | ENSP00000399080.2:n.61+379107A>G | |
| ENST00000515786.2:c.173+193457A>G | ENSP00000445321.1:n.173+193457A>G | |
| NM_001035003.1:c.88+127886A>G | NP_001030175.1:n.88+127886A>G | |
| NM_025221.5:c.61+379107A>G | NP_079497.2:n.61+379107A>G | |
| NM_147181.3:c.61+379107A>G | NP_671710.1:n.61+379107A>G | |
| NM_147182.3:c.-24+193457A>G | NP_671711.1:n.-24+193457A>G | |
| XM_011513882.1:c.61+379107A>G | XP_011512184.1:n.61+379107A>G | |
| XM_011513885.1:c.88+127886A>G | XP_011512187.1:n.88+127886A>G | |
| XM_011513886.1:c.61+379107A>G | XP_011512188.1:n.61+379107A>G | |
| XM_011513888.1:c.-24+193457A>G | XP_011512190.1:n.-24+193457A>G | |
| XM_011513885.3:c.88+127886A>G | XP_011512187.1:n.88+127886A>G | |
| NM_025221.6:c.61+379107A>G MANE Select | NP_079497.2:n.61+379107A>G | |
| NM_001035003.2:c.88+127886A>G | NP_001030175.1:n.88+127886A>G | |
| NM_147181.4:c.61+379107A>G | NP_671710.1:n.61+379107A>G | |
| NM_147182.4:c.-24+193457A>G | NP_671711.1:n.-24+193457A>G |