Linked Data
ClinVar Variation Id:
94817
dbSNP Id:
rs72466567
ExAC:
X:31496308 C / T
gnomAD v2:
X-31496308-C-T
gnomAD v3:
X-31478191-C-T
gnomAD v4:
X-31478191-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31478191C>T , CM000685.2:g.31478191C>T | GRCh38 |
| NC_000023.10:g.31496308C>T , CM000685.1:g.31496308C>T | GRCh37 |
| NC_000023.9:g.31406229C>T | NCBI36 |
| NG_012232.1:g.1866419G>A , LRG_199:g.1866419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3698G>A | ENSP00000350765.3:p.Arg1233His | |
| ENST00000682238.1:c.1472G>A | ENSP00000508124.1:p.Arg491His | |
| ENST00000683450.1:n.2317G>A | ||
| ENST00000683957.1:n.2344G>A | ||
| ENST00000684130.1:c.1472G>A | ENSP00000508037.1:p.Arg491His | |
| ENST00000343523.7:c.707G>A | ENSP00000340057.4:p.Arg236His | |
| ENST00000357033.9:c.8852G>A MANE Select | ENSP00000354923.3:p.Arg2951His | |
| ENST00000619831.5:c.4820G>A | ENSP00000479270.2:p.Arg1607His | |
| ENST00000620040.5:c.1472G>A | ENSP00000478150.2:p.Arg491His | |
| ENST00000680961.1:c.1472G>A | ENSP00000506386.1:p.Arg491His | |
| ENST00000681646.1:n.2513G>A | ||
| ENST00000343523.6:c.665G>A | ENSP00000340057.3:p.Arg222His | |
| ENST00000357033.8:c.8852G>A | ENSP00000354923.3:p.Arg2951His | |
| ENST00000358062.6:c.1940G>A | ENSP00000350765.2:p.Arg647His | |
| ENST00000359836.5:c.1472G>A | ENSP00000352894.1:p.Arg491His | |
| ENST00000378677.6:c.8840G>A | ENSP00000367948.2:p.Arg2947His | |
| ENST00000378707.7:c.1472G>A | ENSP00000367979.3:p.Arg491His | |
| ENST00000474231.5:c.1472G>A | ENSP00000417123.1:p.Arg491His | |
| ENST00000541735.5:c.1472G>A | ENSP00000444119.1:p.Arg491His | |
| ENST00000619831.4:c.8837G>A | ENSP00000479270.1:p.Arg2946His | |
| ENST00000620040.4:c.8849G>A | ENSP00000478150.1:p.Arg2950His | |
| NM_000109.3:c.8828G>A | NP_000100.2:p.Arg2943His | |
| NM_004006.2:c.8852G>A , LRG_199t1:c.8852G>A | NP_003997.1:p.Arg2951His | |
| NM_004009.3:c.8840G>A | NP_004000.1:p.Arg2947His | |
| NM_004010.3:c.8483G>A | NP_004001.1:p.Arg2828His | |
| NM_004011.3:c.4829G>A | NP_004002.2:p.Arg1610His | |
| NM_004012.3:c.4820G>A | NP_004003.1:p.Arg1607His | |
| NM_004013.2:c.1472G>A | NP_004004.1:p.Arg491His | |
| NM_004014.2:c.665G>A | NP_004005.1:p.Arg222His | |
| NM_004020.3:c.1472G>A | NP_004011.2:p.Arg491His | |
| NM_004021.2:c.1472G>A | NP_004012.1:p.Arg491His | |
| NM_004022.2:c.1472G>A | NP_004013.1:p.Arg491His | |
| NM_004023.2:c.1472G>A | NP_004014.1:p.Arg491His | |
| XM_006724468.2:c.8852G>A | XP_006724531.1:p.Arg2951His | |
| XM_006724469.2:c.8828G>A | XP_006724532.1:p.Arg2943His | |
| XM_006724470.2:c.8852G>A | XP_006724533.1:p.Arg2951His | |
| XM_006724471.2:c.8852G>A | XP_006724534.1:p.Arg2951His | |
| XM_006724472.2:c.8723G>A | XP_006724535.1:p.Arg2908His | |
| XM_006724473.2:c.8714G>A | XP_006724536.1:p.Arg2905His | |
| XM_006724474.2:c.8852G>A | XP_006724537.1:p.Arg2951His | |
| XM_006724475.2:c.8852G>A | XP_006724538.1:p.Arg2951His | |
| XM_011545467.1:c.8729G>A | XP_011543769.1:p.Arg2910His | |
| XM_011545468.1:c.8852G>A | XP_011543770.1:p.Arg2951His | |
| XM_006724469.3:c.8828G>A | XP_006724532.1:p.Arg2943His | |
| XM_006724470.3:c.8852G>A | XP_006724533.1:p.Arg2951His | |
| XM_006724474.3:c.8852G>A | XP_006724537.1:p.Arg2951His | |
| XM_011545468.2:c.8852G>A | XP_011543770.1:p.Arg2951His | |
| XM_017029328.1:c.8852G>A | XP_016884817.1:p.Arg2951His | |
| XM_017029331.1:c.3026G>A | XP_016884820.1:p.Arg1009His | |
| NM_000109.4:c.8828G>A | NP_000100.3:p.Arg2943His | |
| NM_004006.3:c.8852G>A MANE Select | NP_003997.2:p.Arg2951His | |
| NM_004011.4:c.4829G>A | NP_004002.3:p.Arg1610His | |
| NM_004012.4:c.4820G>A | NP_004003.2:p.Arg1607His | |
| NM_004021.3:c.1472G>A | NP_004012.2:p.Arg491His | |
| NM_004023.3:c.1472G>A | NP_004014.2:p.Arg491His | |
| NM_004013.3:c.1472G>A | NP_004004.2:p.Arg491His | |
| NM_004014.3:c.665G>A | NP_004005.2:p.Arg222His | |
| NM_004020.4:c.1472G>A | NP_004011.3:p.Arg491His | |
| NM_004022.3:c.1472G>A | NP_004013.2:p.Arg491His |