Linked Data
dbSNP Id:
rs8192917
ExAC:
14:25102160 C / T
gnomAD v2:
14-25102160-C-T
gnomAD v3:
14-24632954-C-T
gnomAD v4:
14-24632954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24632954C>T , CM000676.2:g.24632954C>T | GRCh38 |
| NC_000014.8:g.25102160C>T , CM000676.1:g.25102160C>T | GRCh37 |
| NC_000014.7:g.24172000C>T | NCBI36 |
| NG_028340.1:g.6273G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216341.9:c.164G>A MANE Select | ENSP00000216341.4:p.Arg55Gln | |
| ENST00000216341.8:c.164G>A | ENSP00000216341.4:p.Arg55Gln | |
| ENST00000382540.5:c.164G>A | ENSP00000371980.1:p.Arg55Gln | |
| ENST00000382542.5:c.164G>A | ENSP00000371982.2:p.Arg55Gln | |
| ENST00000415355.7:c.128G>A | ENSP00000387385.3:p.Arg43Gln | |
| ENST00000526004.1:c.164G>A | ENSP00000434213.1:p.Arg55Gln | |
| ENST00000530830.1:c.*87G>A | ENSP00000435084.1:n.*87G>A | |
| ENST00000532263.5:c.56-836G>A | ENSP00000432074.1:n.56-836G>A | |
| ENST00000554242.5:c.164G>A | ENSP00000450535.1:p.Arg55Gln | |
| ENST00000616551.1:c.52-833G>A | ENSP00000479643.1:n.52-833G>A | |
| NM_004131.4:c.164G>A | NP_004122.2:p.Arg55Gln | |
| XM_011536685.1:c.128G>A | XP_011534987.1:p.Arg43Gln | |
| NM_001346011.1:c.128G>A | NP_001332940.1:p.Arg43Gln | |
| NM_004131.5:c.164G>A | NP_004122.2:p.Arg55Gln | |
| NR_144343.1:n.273G>A | ||
| NM_004131.6:c.164G>A MANE Select | NP_004122.2:p.Arg55Gln | |
| NM_001346011.2:c.128G>A | NP_001332940.1:p.Arg43Gln | |
| NR_144343.2:n.194G>A |