Linked Data
dbSNP Id:
rs11942476
gnomAD v2:
4-21455257-C-G
gnomAD v3:
4-21453634-C-G
gnomAD v4:
4-21453634-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.21453634C>G , CM000666.2:g.21453634C>G | GRCh38 |
| NC_000004.11:g.21455257C>G , CM000666.1:g.21455257C>G | GRCh37 |
| NC_000004.10:g.21064355C>G | NCBI36 |
| NG_052969.1:g.500118G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382152.7:c.61+494937G>C MANE Select | ENSP00000371587.2:n.61+494937G>C | |
| ENST00000382148.7:c.88+243716G>C | ENSP00000371583.3:n.88+243716G>C | |
| ENST00000382152.6:c.61+494937G>C | ENSP00000371587.2:n.61+494937G>C | |
| ENST00000447367.6:c.61+494937G>C | ENSP00000399080.2:n.61+494937G>C | |
| ENST00000509207.1:c.-24+90756G>C | ENSP00000423257.1:n.-24+90756G>C | |
| ENST00000515786.2:c.173+309287G>C | ENSP00000445321.1:n.173+309287G>C | |
| NM_001035003.1:c.88+243716G>C | NP_001030175.1:n.88+243716G>C | |
| NM_001035004.1:c.-24+90756G>C | NP_001030176.1:n.-24+90756G>C | |
| NM_025221.5:c.61+494937G>C | NP_079497.2:n.61+494937G>C | |
| NM_147181.3:c.61+494937G>C | NP_671710.1:n.61+494937G>C | |
| NM_147182.3:c.-24+309287G>C | NP_671711.1:n.-24+309287G>C | |
| XM_011513882.1:c.61+494937G>C | XP_011512184.1:n.61+494937G>C | |
| XM_011513885.1:c.88+243716G>C | XP_011512187.1:n.88+243716G>C | |
| XM_011513886.1:c.61+494937G>C | XP_011512188.1:n.61+494937G>C | |
| XM_011513887.1:c.-24+90756G>C | XP_011512189.1:n.-24+90756G>C | |
| XM_011513888.1:c.-24+309287G>C | XP_011512190.1:n.-24+309287G>C | |
| XM_011513885.3:c.88+243716G>C | XP_011512187.1:n.88+243716G>C | |
| XM_011513887.2:c.-24+90756G>C | XP_011512189.1:n.-24+90756G>C | |
| NM_025221.6:c.61+494937G>C MANE Select | NP_079497.2:n.61+494937G>C | |
| NM_001035003.2:c.88+243716G>C | NP_001030175.1:n.88+243716G>C | |
| NM_001035004.2:c.-24+90756G>C | NP_001030176.1:n.-24+90756G>C | |
| NM_147181.4:c.61+494937G>C | NP_671710.1:n.61+494937G>C | |
| NM_147182.4:c.-24+309287G>C | NP_671711.1:n.-24+309287G>C |