Revel Score:
ENST00000539935 (MANE Select)
0.276
ENST00000439467
0.276
ENST00000427385
0.276
ENST00000201943
0.276
ENST00000339254
0.276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152098384G>C , CM000664.2:g.152098384G>C | GRCh38 |
| NC_000002.11:g.152954898G>C , CM000664.1:g.152954898G>C | GRCh37 |
| NC_000002.10:g.152663144G>C | NCBI36 |
| NG_012641.1:g.5696C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201943.10:c.93C>G | ENSP00000201943.5:p.Ser31Arg | |
| ENST00000427385.6:c.93C>G | ENSP00000410978.2:p.Ser31Arg | |
| ENST00000470066.2:n.222C>G | ||
| ENST00000539935.7:c.93C>G MANE Select | ENSP00000438949.1:p.Ser31Arg | |
| ENST00000636129.1:c.39C>G | ENSP00000489912.1:p.Ser13Arg | |
| ENST00000636442.1:c.39C>G | ENSP00000489779.1:p.Ser13Arg | |
| ENST00000636496.1:c.-209C>G | ENSP00000490249.1:n.-209C>G | |
| ENST00000636762.1:c.39C>G | ENSP00000490918.1:p.Ser13Arg | |
| ENST00000636785.1:c.39C>G | ENSP00000489788.1:p.Ser13Arg | |
| ENST00000637309.1:c.93C>G | ENSP00000490127.1:p.Ser31Arg | |
| ENST00000637913.1:n.78C>G | ||
| ENST00000638005.1:c.39C>G | ENSP00000489677.1:p.Ser13Arg | |
| ENST00000201943.9:c.93C>G | ENSP00000201943.5:p.Ser31Arg | |
| ENST00000427385.5:c.39C>G | ENSP00000410978.1:p.Ser13Arg | |
| ENST00000439467.5:c.78C>G | ENSP00000390161.1:p.Ser26Arg | |
| ENST00000539935.5:c.93C>G | ENSP00000438949.1:p.Ser31Arg | |
| NM_000726.3:c.93C>G | NP_000717.2:p.Ser31Arg | |
| NM_001005746.2:c.39C>G | NP_001005746.1:p.Ser13Arg | |
| NM_001145798.1:c.93C>G | NP_001139270.1:p.Ser31Arg | |
| XM_011511797.1:c.93C>G | XP_011510099.1:p.Ser31Arg | |
| XM_011511798.1:c.93C>G | XP_011510100.1:p.Ser31Arg | |
| XM_011511799.1:c.93C>G | XP_011510101.1:p.Ser31Arg | |
| XR_923022.1:n.1070C>G | ||
| XR_923023.1:n.1070C>G | ||
| NM_000726.4:c.93C>G | NP_000717.2:p.Ser31Arg | |
| NM_001005746.3:c.39C>G | NP_001005746.1:p.Ser13Arg | |
| NM_001145798.2:c.93C>G | NP_001139270.1:p.Ser31Arg | |
| NM_001330113.1:c.39C>G | NP_001317042.1:p.Ser13Arg | |
| XM_011511797.3:c.93C>G | XP_011510099.1:p.Ser31Arg | |
| XM_017004888.2:c.39C>G | XP_016860377.1:p.Ser13Arg | |
| XR_002959337.1:n.246C>G | ||
| XR_923022.3:n.246C>G | ||
| NM_001005746.4:c.39C>G | NP_001005746.1:p.Ser13Arg | |
| NM_001330113.2:c.39C>G | NP_001317042.1:p.Ser13Arg | |
| NM_000726.5:c.93C>G MANE Select | NP_000717.2:p.Ser31Arg |