Linked Data
dbSNP Id:
rs17651157
gnomAD v2:
18-34107452-T-C
gnomAD v3:
18-36527489-T-C
gnomAD v4:
18-36527489-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36527489T>C , CM000680.2:g.36527489T>C | GRCh38 |
| NC_000018.9:g.34107452T>C , CM000680.1:g.34107452T>C | GRCh37 |
| NC_000018.8:g.32361450T>C | NCBI36 |
| NG_042837.1:g.234794T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590592.6:c.511+14946T>C MANE Select | ENSP00000466937.1:n.511+14946T>C | |
| ENST00000257209.8:c.511+14946T>C | ENSP00000257209.3:n.511+14946T>C | |
| ENST00000359247.8:c.511+14946T>C | ENSP00000352186.3:n.511+14946T>C | |
| ENST00000589114.5:n.630+14946T>C | ||
| ENST00000590592.5:c.511+14946T>C | ENSP00000466937.1:n.511+14946T>C | |
| NM_001281739.1:c.511+14946T>C | NP_001268668.1:n.511+14946T>C | |
| NM_001281739.2:c.511+14946T>C | NP_001268668.1:n.511+14946T>C | |
| NM_001281740.1:c.511+14946T>C | NP_001268669.1:n.511+14946T>C | |
| NM_001281740.2:c.511+14946T>C | NP_001268669.1:n.511+14946T>C | |
| NM_025135.3:c.511+14946T>C | NP_079411.2:n.511+14946T>C | |
| NM_025135.4:c.511+14946T>C | NP_079411.2:n.511+14946T>C | |
| XM_005258349.1:c.511+14946T>C | XP_005258406.1:n.511+14946T>C | |
| XM_005258352.1:c.511+14946T>C | XP_005258409.1:n.511+14946T>C | |
| XM_005258354.1:c.511+14946T>C | XP_005258411.1:n.511+14946T>C | |
| XM_005258355.1:c.511+14946T>C | XP_005258412.1:n.511+14946T>C | |
| XM_011526189.1:c.511+14946T>C | XP_011524491.1:n.511+14946T>C | |
| XM_011526190.1:c.511+14946T>C | XP_011524492.1:n.511+14946T>C | |
| XM_011526191.1:c.511+14946T>C | XP_011524493.1:n.511+14946T>C | |
| XM_011526192.1:c.511+14946T>C | XP_011524494.1:n.511+14946T>C | |
| XM_011526193.1:c.511+14946T>C | XP_011524495.1:n.511+14946T>C | |
| XM_011526194.1:c.277+14946T>C | XP_011524496.1:n.277+14946T>C | |
| XM_011526195.1:c.511+14946T>C | XP_011524497.1:n.511+14946T>C | |
| XM_011526196.1:c.511+14946T>C | XP_011524498.1:n.511+14946T>C | |
| XM_011526197.1:c.511+14946T>C | XP_011524499.1:n.511+14946T>C | |
| XM_005258355.2:c.511+14946T>C | XP_005258412.1:n.511+14946T>C | |
| XM_011526190.2:c.511+14946T>C | XP_011524492.1:n.511+14946T>C | |
| XM_011526193.3:c.511+14946T>C | XP_011524495.1:n.511+14946T>C | |
| XM_017026006.2:c.511+14946T>C | XP_016881495.1:n.511+14946T>C | |
| XM_017026007.1:c.256+14946T>C | XP_016881496.1:n.256+14946T>C | |
| XM_017026008.1:c.511+14946T>C | XP_016881497.1:n.511+14946T>C | |
| XM_017026009.1:c.511+14946T>C | XP_016881498.1:n.511+14946T>C | |
| XM_017026010.1:c.277+14946T>C | XP_016881499.1:n.277+14946T>C | |
| XM_024451268.1:c.-15+14946T>C | XP_024307036.1:n.-15+14946T>C | |
| NM_001281739.3:c.511+14946T>C | NP_001268668.1:n.511+14946T>C | |
| NM_001281740.3:c.511+14946T>C MANE Select | NP_001268669.1:n.511+14946T>C | |
| NM_025135.5:c.511+14946T>C | NP_079411.2:n.511+14946T>C |